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Scalp defects necessitate diverse approaches for successful reconstruction, taking into account factors such as defect size, surrounding tissue, and recipient vessel quality. This case report presents a challenging scenario involving a temporal scalp defect where ipsilateral recipient vessels were unavailable. The defect was effectively reconstructed utilizing a transposition flap and a latissimus dorsi free flap, which was anastomosed to the contralateral recipient vessels. Our report underscores the successful reconstruction of a scalp defect in the absence of ipsilateral recipient vessels, emphasizing the importance of employing appropriate surgical interventions without necessitating vessel grafts. [ABSTRACT FROM AUTHOR]

Aplasia cutis congenita (ACC) manifests at birth as a defect of the scalp skin. New findings answer 2 longstanding questions: why ACC forms and why it affects mainly the midline scalp skin. Dominant-negative mutations in the genes KCTD1 or KCTD15 cause ACC owing to loss of function of KCTD1/KCTD15 complexes in cranial neural crest cells (NCCs), which normally form midline cranial suture mesenchymal cells that express keratinocyte growth factors. Loss of KCTD1/KCTD15 function in NCCs impairs the formation of normal midline cranial sutures and, consequently, the overlying skin, resulting in ACC. Moreover, KCTD1/KCTD15 complexes in keratinocytes regulate skin appendage morphogenesis., (Copyright © 2024 The Authors. Published by Elsevier Inc. All rights reserved.)

A 10-year-old healthy, Caucasian girl presented in May 2021 with short and thin scalp hair since birth (Figures 1A-C). She had achieved all of her developmental milestones, and her parents denied any similar family history. She had only two hair cuts in the past, which were performed to trim long hair over the midscalp to have a uniform length. Hair at the front, back, and sides of the scalp were never trimmed. Examination revealed short, dark, and thin hair, varying in length from a few millimeters to 2 cm, over the frontal, parietal, and occipital areas. Longer hair were present over the midscalp, varying in length from 5 cm to 8 cm. The hairpull test was negative, and dermatoscopic examination of short hair demonstrated tapered ends, rather than cut ends. Microscopic examination revealed no hair shaft abnormality, and a trichogram of 50 parietal hair fibers demonstrated an anagen versus telogen ratio of 68:32. No associated skin, dental, or nail abnormalities were discovered.

Neuroendocrine carcinomas are a rare, heterogenous group of malignancies that arise from neuroendocrine cells throughout the body. Cutaneous metastasis of neuroendocrine carcinoma is uncommon and they can be easily misdiagnosed as benign epidermal cysts or Merkel cell carcinoma. Collectively, histopathology, immunochemical profile, biochemical markers, and nuclear imaging can guide the diagnosis of neuroendocrine metastasis and localization of primary tumors. [ABSTRACT FROM AUTHOR]

Background: Scalp reconstruction is a common challenge for surgeons, and there are many different treatment choices. The "crane principle" is a technique that temporarily transfers a scalp flap to the defect to deposit subcutaneous tissue. The flap is then returned to its original location, leaving behind a layer of soft tissue that is used to nourish a skin graft. Decades ago, it was commonly used for forehead scalp defects, but this useful technique has been seldom reported on in recent years due to the improvement of microsurgical techniques. Previous reports mainly used the crane principle for the primary defects, and here we present a case with its coincidental application to deal with a complication of a secondary defect.Case Report: We present a case of a 75-year-old female patient with a temporoparietal scalp squamous cell carcinoma (SCC). After tumor excision, the primary defect was reconstructed using a transposition flap and the donor site was covered by a split-thickness skin graft (STSG). Postoperatively, the occipital skin graft was partially lost resulting in skull bone exposure. For this secondary defect, we applied the crane principle to the previously rotated flap as a salvage procedure and skin grafting to the original tumor location covered by a viable galea fascia in 1.5 months. Both the flap and skin graft healed uneventfully.Conclusions: Currently, the crane principle is a little-used technique because of the familiarity of microsurgery. Nevertheless, the concept is still useful in selected cases, especially for the management of previous flap complications. [ABSTRACT FROM AUTHOR]

The ideal evaluation and treatment of aplasia cutis congenita remains disputed. We present a case of midline scalp cutis aplasia that healed by secondary intention, leaving an area of residual alopecia. There were no clinical indicators of an underlying calvarial defect. Tissue expansion of the scalp was done in preparation for scalp closure. However, on the removal of the expanders and scalp advancement, an unrecognized midline calvarial defect in which a scar tract of herniated dura was found. This resulted in a dural tear, repaired with minimal hemorrhage. However, manipulation of the sagittal sinus resulted in a right subdural hemorrhage followed by cerebral ischemia and a stroke. On the basis of this clinical scenario, we recommend that all cases of midline scalp cutis aplasia undergo preoperative imaging with thin slices of the calvaria before performing scalp advancement-even if the only clinical indication for surgery is scalp alopecia without a palpable skull defect., Competing Interests: The authors report no conflicts of interest., (Copyright © 2024 by Mutaz B. Habal, MD.)

Aplasia cutis congenita (ACC) is a group of rare heterogeneous disorders characterised by absent areas of skin at birth. The majority of cases involve the scalp region. ACC limited to one lower limb is extremely rare. We report an usual case of ACC limited to the left thigh of which healing occurred in utero. The case was managed conservatively and the disease course has been favourable with no limitations in limb function and an entirely normal development. Most cases of ACC are self-healing, justifying a conservative approach. This holds further true for ACC limited to one lower limb where the majority of cases reported to date show a favourable disease course with minimal conservative treatment., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2024. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.)

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Meningothelial hamartoma is a benign tumor composed of ectopic meningothelial elements in the dermis and subcutaneous tissue. It mainly occurs in the scalp; however, the incidence is extremely low. The origin of meningothelial hamartoma has not been elucidated; nevertheless, it has been theorized that it derives from ectopic meningothelial rests displaced during embryologic development. It can be diagnosed histologically as proliferation of connective tissue elements and cells arranged in solid nests, resembling vascular tumors. On immunohistochemistry, it stains positively for epithelial membrane antigen and vimentin. At least 17 cases have been reported, verifying the rarity of the lesion. We present the case of a 16-year-old male patient with a soft scalp mass which was thought to be a lipoma, but turned out to be a meningothelial hamartoma on histology. [ABSTRACT FROM AUTHOR]

Syringocystadenoma papilliferum is a rare, benign adnexal tumor of eccrine or apocrine origin that typically presents at birth or before puberty. Syringocystadenoma papilliferum is associated with a nevus sebaceus in about 400.k> of cases. We present a SO-year old woman with a pink-orange plaque and nodule on the scalp, consistent with syringocystadenoma papilliferum that arose within a nevus sebaceus. [ABSTRACT FROM AUTHOR]

Aplasia cutis congenita (ACC) is a congenital epidermal defect of the midline scalp and has been proposed to be due to a primary keratinocyte abnormality. Why it forms mainly at this anatomic site has remained a long-standing enigma. KCTD1 mutations cause ACC, ectodermal abnormalities, and kidney fibrosis, whereas KCTD15 mutations cause ACC and cardiac outflow tract abnormalities. Here, we found that KCTD1 and KCTD15 can form multimeric complexes and can compensate for each other's loss and that disease mutations are dominant negative, resulting in lack of KCTD1/KCTD15 function. We demonstrated that KCTD15 is critical for cardiac outflow tract development, whereas KCTD1 regulates distal nephron function. Combined inactivation of KCTD1/KCTD15 in keratinocytes resulted in abnormal skin appendages but not in ACC. Instead, KCTD1/KCTD15 inactivation in neural crest cells resulted in ACC linked to midline skull defects, demonstrating that ACC is not caused by a primary defect in keratinocytes but is a secondary consequence of impaired cranial neural crest cells, giving rise to midline cranial suture cells that express keratinocyte-promoting growth factors. Our findings explain the clinical observations in patients with KCTD1 versus KCTD15 mutations, establish KCTD1/KCTD15 complexes as critical regulators of ectodermal and neural crest cell functions, and define ACC as a neurocristopathy.

Background Combined revascularization is the preferred surgical management of adult Moyamoya disease. However, postoperative flap necrosis of the scalp is not an uncommon complication. We investigated the role of scalp incision design on the basis of the course of the superficial temporal artery (STA) to prevent postoperative scalp necrosis. The utility of tissue expander in wide scalp defect repair is explored. Case Description A 13-year-old female patient underwent STA-to-middle cerebral artery anastomosis and encephaloduroarteriosynangiosis due to ischemic symptoms. However, she suffered from wide scalp necrosis measuring 10.5 × 10 cm after bypass surgery. Conventional rotational scalp flap reconstruction was impossible due to the wide defect, and therefore split thickness skin graft was considered. However, aesthetic compromise or hair loss is a psychologic burden in an adolescent female. Two tissue expanders were inserted under the contralateral normal scalp, and a gradual expansion was achieved by saline infusion for 3 months. Finally, a wide scalp flap, which covered the large defect, was obtained using this procedure. The patient underwent rotational flap advancement and was discharged without any hair loss wound. Conclusions Miserable scalp flap design results in a large scalp defect during combined bypass surgery. However, tissue expanders aided the reconstruction of a large scalp defect. Reconstruction using tissue expanders and advancement of local rotation flap is recommended in case of large scalp necrosis. The procedure yields cosmetically superior outcomes due to scalp hair conservation and concealment of postoperative scar behind the hair line. Highlights • Combined revascularization is the preferred surgical management of adult moyamoya disease. • Postoperative flap necrosis of the scalp is not an uncommon complication. • The utility of tissue expander in wide scalp defect repair is explored. • Miserable scalp flap design results in a large scalp defect during combined bypass surgery. • Tissue expanders aid the reconstruction of a large scalp defect. [ABSTRACT FROM AUTHOR]

Objective In deep brain stimulation (DBS) surgery, acute high blood pressure (BP) is a risk factor for intracranial hemorrhage. To minimize pain and hypertensive conditions, sufficient local anesthesia is mandatory. We evaluated whether local instillation of anesthetics (LA) or a scalp block (SB) is superior concerning intraoperative hemodynamics and analgesia. Methods We retrospectively analyzed intraoperative cardiovascular parameters and perioperative medication in 47 patients (LA = 29, SB = 18) undergoing DBS surgery. Primary study end points were intraoperative systolic BP and heart rate. Secondary end points were use of intraoperative antihypertensives and perioperative analgesics. Results Patients who had SB showed lower mean systolic BP and heart rate compared with patients who had LA. Patients who had LA required more antihypertensive medication to stabilize BP. BP was higher, particularly during the first 90 minutes of surgery, in patients who had LA. Thereafter, more antihypertensives were necessary to achieve sufficient BP control in the LA group. The dose of analgesics did not differ significantly between both groups during and after surgery. Conclusions Our data suggest that SB might be superior to LA for DBS surgery with respect to BP control and hemodynamics. The need for analgesics does not differ substantially between both anesthetic treatment options. Highlights • Optimal cardiovascular parameters are known to reduce surgery related risks in deep brain stimulation. • Scalp block is superior to local anesthesia in providing optimal hemodynamics. • Patients who had scalp block need significantly less antihypertensives during surgery. • A simple and practical way to optimize deep brain stimulation surgery. [ABSTRACT FROM AUTHOR]

Background/Objectives: Scalp dysesthesia is characterised by abnormal cutaneous sensations such as burning, stinging or itching of the scalp in the absence of objective dermatological findings. We hypothesised that the unpleasant sensations are the result of a sensory neuropathy secondary to cervical spine dysfunction and chronic tension of the pericranial muscles. The aim of this pilot study was to evaluate the use of an exercise protocol consisting of cervical spine range of movement exercises, gentle mobilisation and muscle stretches over 4 weeks. The exercise protocol was designed to relieve cervical nerve compression through the restoration of cervical homeostasis. Methods: In total, 16 participants, aged 18–71 (average 45 years), diagnosed with scalp dysesthesia were recruited from an outpatient dermatology clinic and given instructions on how to perform a specifically designed exercise protocol twice daily for 4 weeks. Baseline characteristics and a visual analogue scale (VAS) for pruritus were recorded prior to commencement and a VAS for pruritus recorded weekly thereafter. Results: At week 4, 10 participants experienced a satisfactory reduction in their symptoms, four experienced complete resolution and two experienced no benefit, with no adverse effects reported. We conclude that a programme of simple exercises and stretches is an effective treatment for scalp dysesthesia. Conclusions: This low‐risk treatment is easily implemented, non‐invasive and non‐pharmacological. Within the limits of this small pilot study, benefits are shown, and we believe further research is warranted. [ABSTRACT FROM AUTHOR]

Woolly hair is a rare congenital abnormality of the structure of the scalp hair characterized by tightly coiled hair involving part or the entire scalp occurring in an individual of nonnegroid origin. In 1974, Hutchinson et al. classified woolly hair into three variants: A localized variant (woolly hair nevus) and two generalized variants, including autosomal dominant hereditary woolly hair and autosomal recessive (AR) familial woolly hair. Lichen planopilaris is a most frequent presentation of primary cicatricial alopecia. We hereby describe a patient with AR familial woolly hair and lichen planoplaris who has not been previously reported. We believe that the accumulation of these rare associations in the literature will be useful in understanding etiopathogenesis of the diseases. [ABSTRACT FROM AUTHOR]

The ideal scalp reconstruction involves closure of the defect with similar hair-bearing local tissue in a single step. Various reconstructions can be used including primary closure, secondary healing, skin grafts, local flaps, and microvascular tissue transfer. A 53-year-old female patient suffered glioblastoma, which had recurred for the second time. The neurosurgeons performed radial debridement and an additional resection of the tumor, followed by reconstruction using a serratus anterior muscle flap with a split-thickness skin graft. Unfortunately, the flap became completely useless and a bilateral rotation flap was used to cover the defect. Two month later, seroma with infection was found due to recurrence of the tumor. Additional surgery was performed using multiple perforator based island flap. The patient was discharged two weeks after surgery without any complications, but two months later, the patient died. Radical surgical resection of tumor is the most important curative option, followed by functional and aesthetic reconstruction. We describe a patient with a highly malignant tumor that required multiple resections and subsequent reconstruction. Repeated recurrences of the tumor led to the failure of reconstruction and our strategy inevitably changed, from reconstruction to palliative treatment involving fast and stable wound closure for the patient's comfort. [ABSTRACT FROM AUTHOR]

Aims: Growing skull fracture (GSF) is a rare complication resulting from diastatic enlargement of a pediatric skull fracture. Orbitocranial GSF is a distinct variant with more complex management issues due to the displacement of the globe. This study aims to discuss surgical considerations in the management of GSF, with particular reference to orbitocranial variants. Methods: We conducted a retrospective analysis of 7 children operated for GSFs at our institute from 2008 to 2015. Results: Four boys and 3 girls were operated during this period. The mean age at initial trauma was 2 years, and most of them sustained falls. The most frequent symptoms of GSF were progressive scalp swelling and proptosis. The most common location was the orbitofrontal region. Duraplasty with cranioplasty was performed in 5 patients, while duraplasty alone was only required in 2 patients. A postoperative complication was noted in 1 patient and managed successfully. Good cosmetic results were obtained in all of the cases. Conclusions: Duraplasty is essential in the repair of GSF and should be followed by cranioplasty to prevent recurrent leptomeningeal herniation. We recommend the use of autologous bone from the surgical site for cranioplasty. Orbital roof repair is advisable for good visual and cosmetic outcome in orbitocranial variants of GSF. [ABSTRACT FROM AUTHOR]

Background: Scalp arteriovenous malformation (AVM) is a rare congenital disease that may present with massive bleeding. To date, surgical excision remains the definitive management. However, the procedure could lead to intraoperative bleeding due to the tumor's high blood flow and complex vascularity., Case Report: A 49-year old Filipino male presented with a bleeding giant scalp AVM. Computed tomographic scan and duplex studies showed multiple feeding vessels with turbulent flow arising primarily from the right superficial temporal, right posterior auricular, and occipital vessels. Prior to surgery, the patient underwent transfusion due to preoperative hemoglobin of 6 g/dL. Proximal control of the right external carotid artery was performed through a supine position and left in place to reduce the majority of blood flow to the AVM. The patient was turned to a prone position for surgical planning to achieve maximal skin-sparing dissection prior to excision. First, ligation of bilateral superficial temporal and posterior auricular arteries was performed. Next, excision above the periosteum with segmental ligation of feeding vessels around the AVM was carried out. Reconstruction of the defect was done via scalp advancement flap and split-thickness skin grafting. Intraoperative blood loss was 1.6 L. On the sixth postoperative day, the patient was discharged with 100% graft take., Conclusion: Management of scalp AV malformation is challenging, and despite measures to decrease intraoperative bleeding, blood loss is still high. While preoperative embolization has been reported to decrease the risk of bleeding, this procedure is not currently available in our setting. Our case highlights the complexity of giant scalp AV malformation management in a limited-resource setting. Even in the absence of endovascular intervention, outright surgical excision of AVM can be performed, albeit with higher levels of blood loss.

Scalp defect management is complicated secondary to reduced laxity in the scalp and forehead area. For reconstruction of larger defects with exposed bone and loss of the periosteal layer, free flap reconstruction is one option for single-stage surgery, although the procedure is lengthy and includes the possibility of flap loss. We successfully performed a single-stage reconstruction of a large scalp defect using a combination of artificial dermis, split-thickness skin graft, and full-thickness skin graft following wide excision of a cutaneous angiosarcoma, and present our method as one option for the treatment of large oncologic surgical defects in patients who are poor candidates for free flap surgery. [ABSTRACT FROM AUTHOR]

Objective: The epileptogenic zone (EZ) is a brain region containing the sources of seizure genesis. Removal of the EZ is associated with cessation of seizures after resective surgical procedures, as measured by Engel Class I score. This study describes a novel EEG (electroencephalography) source imaging (ESI) method which uses cross-frequency coupled potential signals (SCFC) derived from scalp EEG. Methods: Scalp EEG were recorded from ten patients (20 seizures) suffering from epilepsy. The S CFC were constructed from the phase and amplitude of the lower and higher frequency rhythms at electrographic seizure onset. ESI was then performed using the SCFC. Validation of the technique was facilitated by forward and inverse computer modeling of known cortical sources, and the correspondence of the ESI with EZ in resected regions of patients. Results: For ten seizures sampled at or above 500 Hz from four patients, all estimated sources lay within the resected region, emphasizing the clinical importance of higher sampling rates. The SCFC demonstrated significant advantages over the “raw” scalp EEG, indicating its robust noise performance. Modeling investigations indicated that a signal-to-noise ratio above 0.2 was sufficient to achieve successful localization regarding EMG artifacts. Conclusion: The association of the estimated sources to the EZ suggests that cross-frequency coupling is a feature of the brain's neural networks, not of artifactual activity. The SCFC can effectively extract brain signals from a noisy background. Significance: We propose this approach to enhance the placement of intracranial electrode for surgical intervention. [ABSTRACT FROM PUBLISHER]

Background: Psoriasis is a chronic inflammatory skin disease affecting 2-3% of the population in the world. The scalp is the most common, and frequently the first site of disease involvement. Occasionally it may be the only localization of psoriasis. Objective: Treatment of scalp psoriasis is often unsatisfactory, due to limited available topical therapy and reduced efficacy of some systemic drugs. Biologic therapies are recommended for severe psoriasis, resistant to topical treatment, but evidence from randomized, controlled studies is lacking regarding effectiveness on scalp-localized lesions. The aim of this paper is to show our experience on the efficacy of secukinumab on scalp psoriasis involvement. Methods: Adult patients with moderate to severe plaque psoriasis located in the scalp, who were eligible for biological therapy were selected for treatment with secukinumab. Results and Conclusion: Several clinical studies have shown the efficacy of secukinumab on plaque psoriasis, and some encouraging experience suggest the use in difficult sites such as the scalp; this article reports effective treatment with secukinumab of a series of patients with plaque and scalp psoriasis. [ABSTRACT FROM AUTHOR]

Background . Adams-Oliver syndrome is a congenital disease whose main findings are aplasia cutis congenita of the scalp and terminal transverse limb defect s . The pathogenesis is unknown, but it is postulated that ischemic events in susceptible tissues cause the lesions in the embryonic period. Case report . We present a newborn with a severe phenotype of Adams-Oliver syndrome. The infant's mother had a SARS-CoV-2 infection in the first trimester of pregnancy. Prenatal ultrasound indicates a probable worsening of the disease after the first trimester. Conclusion. This study shows a previously unpublished severe AOS phenotype in a term newborn. There are some signs that the disease could have progressed beyond the first trimester, either spontaneously or by the inflammatory mechanisms of SARS-CoV-2.

Background: Scalp arteriovenous malformations (SAVM) are extremely uncommon vascular malformations, with only ~200 cases published in the English language in the past years. The objective of the present study was to describe the experience of a single reference service in neurosurgery., Methods: This is a descriptive and retrospective study conducted at our institution, which included cases of SAVM treated between 2001 and 2022. All information were extracted from the medical records of our institution. Patient confidentiality was preserved. Furthermore, an illustrative case has been described in detail., Results: Seven patients were included. The male-to-female ratio was 2.5: 1 and the mean age was 23.3 (3-42) years. Most cases (56.4%) were spontaneous and the lesions were located in the frontal (28.7%) and parietal (28.7%) regions. All lesions were supplied by more than one feeder, with the superficial temporal and occipital arteries being the most commonly involved (71.5%). Six patients underwent preoperative embolization, and 56.4% patients had scalp necrosis. Five patients underwent surgical resection, all without recurrence and with good postoperative evolution., Conclusions: More than one artery was involved in all cases, and the properties of the involved vessel influences the approach strategy. Surgical treatment is curative, and preoperative embolization helps reduce bleeding during the surgery. Complete resection of the lesions prevents associated complications, such as bleeding or recurrence. Scalp necrosis is a frequent complication in the treatment of these lesions, and a multidisciplinary approach involving reconstructive plastic surgery should always be considered.

Objective Defects of the scalp after surgical resections of skin cancers are common conditions. The purpose of this article is to present a useful technique for the repair of large scalp defects extending to bone using galea-aponeurotic flaps and split-thickness skin grafts. Methods and results The technique and cosmetic results of this method are displayed and the minimal invasiveness compared to other techniques in the elderly is underlined and discussed. Conclusion Large defects extending to bone can present a significant challenge to the reconstructive head and neck surgeon because the lack of elasticity of the scalp skin may inhibit direct approximation and the lack of vascularity of the bony wound ground may not support skin grafts. Despite its excellent clinical usefulness, the presented approach has not been highlighted as yet. In conclusion, this surgical technique is a simple, fast, minimal-invasive and reliable approach for the reconstruction of large scalp defects extending to bone. It is of particular benefit in patients with a baldhead and in the elderly and infirm. [ABSTRACT FROM AUTHOR]

Purpose: We aimed to investigate the molecular basis of a novel recognizable neurodevelopmental syndrome with scalp and enamel anomalies caused by truncating variants in the last exon of the gene FOSL2, encoding a subunit of the AP-1 complex., Methods: Exome sequencing was used to identify genetic variants in all cases, recruited through Matchmaker exchange. Gene expression in blood was analyzed using reverse transcription polymerase chain reaction. In vitro coimmunoprecipitation and proteasome inhibition assays in transfected HEK293 cells were performed to explore protein and AP-1 complex stability., Results: We identified 11 individuals from 10 families with mostly de novo truncating FOSL2 variants sharing a strikingly similar phenotype characterized by prenatal growth retardation, localized cutis scalp aplasia with or without skull defects, neurodevelopmental delay with autism spectrum disorder, enamel hypoplasia, and congenital cataracts. Mutant FOSL2 messenger RNAs escaped nonsense-mediated messenger RNA decay. Truncated FOSL2 interacts with c-JUN, thus mutated AP-1 complexes could be formed., Conclusion: Truncating variants in the last exon of FOSL2 associate a distinct clinical phenotype by altering the regulatory degradation of the AP-1 complex. These findings reveal a new role for FOSL2 in human pathology., Competing Interests: Conflict of Interest L.A.P.-J. is founding partner and scientific advisor of qGenomics Laboratories. All other authors declare no conflicts of interest., (Copyright © 2022 American College of Medical Genetics and Genomics. All rights reserved.)

Cutis aplasia is a rare condition characterized by skin and subcutaneous tissue defects. Researchers have previously described both conservative and surgical management methods. We report herein the case of a neonate with extensive cutis aplasia involving 37% of the total body surface area. Due to the risk of meningitis and catastrophic hemorrhage associated with scalp defects, she underwent staged surgical procedures with skin harvesting and synthetic skin application, followed by the application of cultured epithelial autografts. This report highlights the challenges in temperature and fluid management as well as intraoperative positioning in a neonate with cutis aplasia., Competing Interests: The authors declare no conflicts of interest., (Copyright © 2022 International Anesthesia Research Society.)

One of the few conditions associated with skin ulceration in the neonatal period is aplasia cutis congenita (ACC). ACC or congenital absence of the skin is considered an uncommon anomaly. This malformation commonly appears on the scalp as a solitary lesion, though it can be seen in other surfaces of the body such as the trunk, limbs and face. ACC can be associated with other physical anomalies such as defects of the heart, gastrointestinal system, genitor-urinary system, central nervous system, and also in association with umbilical hernia. There are very few reports of ACC and seizure as a prominent clinical manifestation. In this study, we present a premature neonate with ACC lesions on the right side of the nose, on the right hand and the foot, together with frequent seizures with onset within the initial hours of the birth. Laboratory testing and brain MRI of the patient revealed no significant results. This case may present a new group of ACC classification, or a new neurocutaneous syndrome. [ABSTRACT FROM AUTHOR]

Background: Noonan and Noonan-like syndromes are multisystem genetic disorders, mainly with autosomal dominant trasmission, caused by mutations in several genes. Missense pathogenetic variants of SOS1 gene are the second most common cause of Noonan syndrome (NS) and account approximately for 13% to 17% of cases. Subjects carrying a pathogenetic variant in SOS1 gene tend to exhibit a distinctive phenotype that is characterized by ectodermal abnormalities. Cutis verticis gyrata (CVG) is a rare disease, congenital or acquired, characterized by the redundancy of skin on scalp, forming thick skin folds and grooves of similar aspect to cerebral cortex gyri. Several references in the literature have reported association between nonessential primary form of CVG and NS., Case Presentation: we report two cases of newborns with CVG and phenotype suggestive for NS who have been diagnosed to harbour the same pathogenetic variant in SOS1 gene., Conclusions: previously described patients with NS presenting CVG had received only clinical diagnosis. Therefore we report the first patients with CVG in which the clinical suspicion of NS is confirmed by molecolar analysis., (© 2022. The Author(s).)

Scalp disorders are very common in general practice, and result in emotional stress in adult patients due to the associated social stigma. They occur as primary diseases of the scalp, as part of a generalised inflammatory skin disease, or as part of a systemic disease. In this article, a brief overview of clinical features, and treatment of some of these conditions, is provided. [ABSTRACT FROM AUTHOR]

Trichoepithelioma is a trichogenic tumor which arises from the inferior segment of hair follicle epithelium as hamartoma. Giant solitary trichoepithelioma (GST) has been defined as a solitary trichoepithelioma with a diameter greater than 2 cm. A 49-year-old female presented with a slow growing skin coloured swelling on the scalp of 8 years duration with recent history of ulceration and occasional bleeding. The local examination revealed a single well defined nodular swelling which was irregular in shape measuring approximately 2 x 2.5 cm. Histopathology from biopsy specimen revealed dark basaloid cells with scanty cytoplasm and darkly stained nucleus arranged in nests with horn cysts lacking high-grade atypia and mitosis, which was consistent with features of trichoepithelioma. Giant solitary trichoepithelioma of scalp is itself a rare entity and the present case is being reported with the additional component of ulceration in the lesion. [ABSTRACT FROM AUTHOR]

The article presents a case study of a male infant who showed signs of trauma during delivery, including hematoma of the nose base and birth swelling of the scalp. He was diagnosed with Adams-Oliver syndrome (AOS), which is a rare, multisystem disease that is characterized with congenital scalp defects and terminal limb anomalies. His mother has aplasia cutis, signifying that she is the autosomal dominant mode of inheritance.

Cutis verticis gyrata (CVG) is an abnormality of the scalp characterized by the formation of furrows and folds which cannot be flattened by traction or pressure. Primary and secondary forms of CVG have been described. We report on a patient affected by cutis verticis gyrata, mental regression and Lennox-Gastaut syndrome (LGS). Serum hormonal levels, karyotype and X fragile studies were normal. Magnetic resonance imaging of the brain showed only atrophic changes. The etiology of primary CVG remains unknown as does its relation with LGS. [ABSTRACT FROM AUTHOR]

Aplasia cutis congenita is a rare heterogeneous group of congenital developmental disorder of the skin. ACC usually involves scalp. We report an interesting presentation of ACC in a neonate with extensive lesions over bilateral thighs as well as feet. Such symmetrical distributions being rarely reported. [ABSTRACT FROM AUTHOR]

Aplasia cutis congenita is a rare embryologic disorder characterized by localized or generalized absence of skin. The disease is frequently sporadic, however, it may also be familial. It usually affects the scalp, but, even rarely, it may be seen on other body areas. Skin may be affected with or without some congenital anomalies, especially bone anomalies. An 8-month-old girl presented with skin defect at the vertex since birth. A hair collar sign was observed around the lesion. In our case, bone and other systemic abnormalities were not associated with skin defect. Here, we report the case of a patient clinically diagnosed with bullous aplasia cutis congenita with hair collar sign which is a rare entity. [ABSTRACT FROM AUTHOR]

Objectives: Pathogenic missense variants in the potassium channel tetramerization domain-containing 1 (KCTD1) gene are associated with autosomal dominant Scalp-Ear-Nipple syndrome (SENS), a type of ectodermal dysplasia characterized by aplasia cutis congenita of the scalp, hairless posterior scalp nodules, absent or rudimentary nipples, breast aplasia and external ear anomalies. We report a child with clinical features of an ectodermal dysplasia, including sparse hair, dysmorphic facial features, absent nipples, 2-3 toe syndactyly, mild atopic dermatitis and small cupped ears with overfolded helices. We also review the published cases of SENS with molecularly confirmed KCTD1 variants., Methods and Results: Using whole-exome sequencing, we identified a novel, de novo in-frame insertion in the broad-complex, tramtrack and bric-a-brac (BTB) domain of the KCTD1 gene. By comparing to the previously reported patients, we found that our patient's clinical features and molecular variant are consistent with a diagnosis of SENS., Conclusions: This is only the 13th KCTD1 variant described and the first report of an in-frame insertion causing clinical features, expanding the mutational spectrum of KCTD1 and SENS., (Copyright © 2021 Wolters Kluwer Health, Inc. All rights reserved.)

Combined scalp and skull deficiency due to malignant scalp tumors or sequelae of intracranial surgery present challenging entities for both neurosurgeons and reconstructive treatment. In complex cases, an interdisciplinary approach is needed between neurosurgeons and cranio-maxillofacial surgeons. We present a considerably large series for which we identify typical complications and pitfalls and provide evidence for the importance of an interdisciplinary algorithm for chronic wound healing complications and malignomas of the scalp and skull. We retrospectively reviewed all patients treated by the department of neurosurgery and cranio-maxillofacial surgery at our hospital for complex scalp deficiencies and malignant scalp tumors affecting the skull between 2006 and 2019, and extracted data on demographics, surgical technique, and perioperative complications. Thirty-seven patients were treated. Most cases were operated simultaneously (n: 32) and 6 cases in a staged procedure. Nineteen patients obtained a free flap for scalp reconstruction, 15 were treated with local axial flaps, and 3 patients underwent full thickness skin graft treatment. Complications occurred in 62% of cases, mostly related to cerebrospinal fluid (CSF) circulation disorders. New cerebrospinal fluid (CSF) disturbances occurred in 8 patients undergoing free flaps and shunt dysfunction occurred in 5 patients undergoing local axial flaps. Four patients died shortly after the surgical procedure (perioperative mortality 10.8%). Combined scalp and skull deficiency present a challenging task. An interdisciplinary treatment helps to prevent severe and specialty-specific complications, such as hydrocephalus. We therefore recommend a close neurological observation after reconstructive treatment with focus on symptoms of CSF disturbances.

The article presents a case study of a 32-year-old previously healthy woman who was observed with a 3-year history of hair loss. The presence of positive Jacquet's sign with easy formation of several folds in the occipito/parietal scalp is explored. The diagnosis of traction alopecia (TA) that is defined as hair loss triggered by prolonged and persistent tension on the hair due to different hairstyling is also tackled.

The article presents the case of a two-day-old boy with a lesion on the scalp, diagnosed as aplasia cutis congenita (ACC), a congenital absence of all the skin layers. Topics discussed include most common presentation of ACC at birth, epithelial ectoderm as the most lacking tissue in ACC, and cause of death in cases of ACC.

A 26-year-old male had suffered a burn injury to his scalp in childhood and ignored it. He presented with a complaint of something crawling on his head. Inspection of his scalp revealed multiple maggots on the brain surface with erosion of overlying bone and scalp. He was successfully managed by surgical debridement and regular dressing. [ABSTRACT FROM AUTHOR]

Potassium‑channel tetramerization-domain-containing 1 (KCTD1) mutations are reported to result in scalp‑ear‑nipple syndrome. These mutations occur in the conserved broad‑complex, tramtrack and bric a brac domain, which is associated with inhibited transcriptional activity. However, the mechanisms of KCTD1 mutants have not previously been elucidated; thus, the present study aimed to investigate whether KCTD1 mutants affect their interaction with transcription factor AP‑2α and their regulation of the Wnt pathway. Results from the present study demonstrated that none of the ten KCTD1 mutants had an inhibitory effect on the transcriptional activity of AP‑2α. Co‑immunoprecipitation assays demonstrated that certain mutants exhibited changeable localization compared with the nuclear localization of wild‑type KCTD1, but no KCTD1 mutant interacted with AP‑2α. Almost all KCTD1 mutants, except KCTD1 A30E and H33Q, exhibited differential inhibitory effects on regulating TOPFLASH luciferase reporter activity. In addition, the interaction region of KCTD1 to the PY motif (amino acids 59‑62) in AP‑2α was identified. KCTD1 exhibited no suppressive effects on the transcriptional activity of the AP‑2α P59A mutant, resulting in Char syndrome, a genetic disorder characterized by a distinctive facial appearance, heart defect and hand abnormalities, by altered protein cellular localization that abolished protein interactions. However, the P59A, P60A, P61R and 4A AP‑2α mutants inhibited TOPFLASH reporter activity. Moreover, AP‑2α and KCTD1 inhibited β‑catenin expression levels and SW480 cell viability. The present study thus identified a putative mechanism of disease‑related KCTD1 mutants and AP‑2α mutants by disrupting their interaction with the wildtype proteins AP‑2α and KCTD1 and influencing the regulation of the Wnt/β‑catenin pathway.