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Background: Aplasia cutis congenita (ACC) is a rare congenital malformation characterized by a localized absence of skin. which most commonly affects the scalp. We performed the present study to elucidate the basic clinical data regarding ACC in Korea, including demographics, clinical features, radiological and therapeutic results., Methods: Fifty-nine patients (70 lesions) with ACC (35 from our department and 24 from a Koreamed database search) were enrolled. We assessed demographics, family and obstetrical histories, clinical features (multiplicity, subtype, size, shape, hair collar sign, location, and Frieden's classification), and radiologic and therapeutic results., Results: The mean age of patients was 2.62 years, with a male-to-female ratio of 1.03. A minority of patients had a family history (three patients), birth trauma (one patient), maternal drug use (two patients), or human immunodeficiency virus infection (one patient) during pregnancy, and fetus papyraceus of placental infarcts (two patients). Six patients (6/59, 10.17%) had multiple lesions. Scarring was the most common manifestation (39/70, 55.71%). The scalp was the most commonly affected site (50 cases, 71.43%). Thirty-nine patients (66.10%) met Frieden's type I classification (scalp ACC without multiple anomalies). Radiological investigations were performed in 30 patients (30/59, 50.85%) with abnormal findings in eight patients. Twenty-five patients (42.37%) were managed conservatively, and 17 patients (28.81%) were treated with local wound care., Conclusions: This is the first and largest study assessing the basic clinical data of ACC in Korea. The results of the present study could be useful for pediatricians and dermatologists who routinely manage ACC., (© 2020 Japan Pediatric Society.)

Background: Aplasia cutis congenita (ACC) is a rare and heterogeneous disorder characterized by congenital absence of skin. The scalp is the most commonly affected site and lesions may overlie deeper ectodermal abnormalities. The exact etiology is still unknown, and histopathologic features are poorly defined., Methods: A series of 10 cases from nine patients was analyzed to characterize the clinicopathologic spectrum and age-related changes of ACC of the scalp. Hematoxylin and eosin, S100, Elastica van Gieson, and Weigert elastic stains were performed, and clinical information was retrieved from archived medical files., Results: Patient ages ranged from 1 day to 39 years (median 57 months). All cases resembled deep-reaching scars with almost complete loss of all adnexal structures. Isolated residual hair follicles were present in 8/10 and sweat glands and ducts in 2/10 cases. The subcutis was thinned or absent. Elastic fibers were always more fragmented than in normal tissue, and the thickness and density increased over time. There was no gain of adnexal structures with increasing age., Conclusions: ACC represents a congenital scarring alopecia with permanent loss of skin appendages. Histopathologic changes resemble a deep-reaching scar with fragmented elastic fibers and differentiate ACC from all other forms of non-traumatic congenital alopecias., (© 2020 The Authors. Journal of Cutaneous Pathology published by John Wiley & Sons Ltd.)

Competing Interests: None

A quiz about aplasia cutis congenita is presented.

The article presents case study of 15-year-old boy presented with a 2-year history of scalp changes. It mentions physical examination revealing convoluted folds and furrows in a cerebriform pattern located in the parietooccipital region; and primary essential cutis verticis gyrata was diagnosed. It adds surgical treatment may be provided.

A letter to the editor is presented in response to the article "Erythema nodosum induced by kerion Celsi in a Tunisian child: A case report" by Mariem Mohamed, Marouene Belkahla and Faten Hammedi in the previous issue.

The article describes the case of a baby with vasicular scalp lesions who was born to a 25-year-old primigravid without history of genital herpes simplex virus (HSV). The baby underwent a full septic workup and did not receive antiviral medication. The article discusses aplasia cutis congenita as a condition wherein the focal areas of dermis and epidermis are not present.

The scalp-ear-nipple (SEN) syndrome is an autosomal-dominant disorder characterized by cutis aplasia of the scalp and malformations of breast, external ears, digits, and nails. Genetic analyses have shown that the disease is caused by missense mutations of the KCTD1 protein, although the functional/structural basis of SEN insurgence is hitherto unknown. With the aim of unravelling the molecular basis of the SEN syndrome associated with KCTD1 mutations we here expressed and characterized several disease causing mutants. A preliminary dissection of the protein provides insights into the role that individual domains play in KCTD1 stability. The characterization of SEN-causing mutants indicates that, although the mutation sites are located in distant regions of the BTB domain or of the pre-BTB region, all of them are unable to interact with the transcription factor AP-2α, a well-known KCTD1 biological partner. Notably, all mutations, including the one located in the pre-BTB region, produce a significant destabilization of the protein. The structural role of the pre-BTB region in KCTD1 and other proteins of the family is corroborated by its sequence conservation in orthologs and paralogs. Interestingly, SEN-causing mutations also favor the tendency of KCTD1 to adopt structural states that are characterized by the ability to bind the β-amyloid fluorescent dye thioflavin T. The formation of aggregation-prone species may have important implications for the disease etiology. Collectively, these findings provide an intriguing picture of the functional and structural alterations induced by KCTD1 mutations that ultimately lead to disease.

The cutis verticis gyrata (CVG) is a clinical stigma considered to be very rare that mostly affects males. It consists of characteristic folds in the scalp, similar to cerebral convolutions, which tend to affect the parietal and occipital areas. It is considered a pachyderma of the cranial skin, and can appear at different ages for different reasons. Images are shown of the first clinical case described in prisons, as well as the initial diagnostic and therapeutic approach.

Background: Cutis Verticis Gyrata (CVG) is a rare skin disease caused by overgrowth of the scalp, presenting as cerebriform folds and wrinkles. CVG can be classified into two forms: primary (essential and non-essential) and secondary. The primary non-essential form is often associated with neurological and ophthalmological abnormalities, while the primary essential form occurs without associated comorbidities., Discussion: We report on a rare case of primary essential CVG with a 4-year history of normal-colored scalp skin mass in the parietal-occipital region without symptom in a 34-year-old male patient, retrospectively summarizing his pathological and Computer Tomography (CT) and magnetic resonance imaging (MRI) findings. The major clinical observations on the CT and MR sectional images include a thickened dermis and excessive growth of the scalp, forming the characteristic scalp folds. With the help of CT and MRI Three-dimensional (3D) reconstruction techniques, the characteristic skin changes could be displayed intuitively, providing more evidence for a diagnosis of CVG. At the 5-year followup, there were no obvious changes in the lesion., Conclusion: Based on our observations, we propose that not all patients with primary essential CVG need surgical intervention, and continuous clinical observation should be an appropriate therapy for those in stable condition., (Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.net.)

Background: Nummular headache is a distinct headache disorder characterized by a rounded or elliptical symptomatic area that is typically 2 to 6 cm in diameter and does not change in shape or size with time. Although the pathomechanism is still not clear, nummular headache is thought to be a primary headache disorder. To date, more than 250 cases have been reported; the symptoms of this disease vary, but no cases with scalp temperature changes in the symptomatic areas have been reported yet. In this study, we present three patients with a new manifestation of nummular headache, in which the symptomatic areas of the scalp were colder or warmer than normal areas; we believe that our work might be helpful for medical practitioners and researchers.Case Presentation: The temperature differences between the symptomatic areas and the normal areas were tested in three patients with nummular headache accompanied by changes in scalp temperature. Three patients' symptomatic areas were either colder or warmer than the normal areas. In every case, we took measurements from the painful site and from the opposite side of the head. The margin of error was 0.01 °C, and the difference was statistically significant (P < 0.01).Conclusion: We firmly believe that our study will provide an enriched understanding of the variation in clinical manifestations of nummular headache. Our observations might also have clinical implications regarding the pathomechanism of this disease, which remains largely unclear at present. [ABSTRACT FROM AUTHOR]

We report a case of woolly hair nevus with pigmentary demarcation lines and heterochromia iridis. Woolly hair nevus is a rare abnormality of the scalp hair characterized by the patch of hair, which is curlier and light colored than the rest of the scalp hair. Association of woolly hair nevus with some other ectodermal defects effecting skin and eyes has been reported before. Here, woolly hair nevus associated with demarcation lines and heterochromia iridis, to our knowledge, have not been previously reported. [ABSTRACT FROM AUTHOR]

Objectives: This study aimed to investigate the off-label use of a combination calcipotriol plus betamethasone dipropionate (CBD) gel in the treatment of moderate-to-severe scalp seborrhoeic dermatitis (SSD)., Methods: This retrospective study involved 32 patients with SSD who were prescribed CBD gel at the Subang Jaya Medical Centre, Selangor, Malaysia, between January 2016 and December 2017. The Physician Global Assessment Scale was used to assess disease severity. Itching/discomfort was evaluated using a visual analogue scale., Results: The mean age was 35.8 ± 6.9 years. Severe disease was seen in 53.1%. Complete clearance was recorded in 15.6%, 40.6% and 59.4% of patients at weeks two, six and 10, respectively. By week 10, 87.5% had achieved marked improvement. Both mean itching and discomfort scores significantly improved at weeks two, six and 10 ( P <0.001). Better outcomes were significantly associated with disease duration and itching intensity and discomfort at presentation ( P <0.050)., Conclusion: CBD gel should be considered as an option for SSD cases not adequately controlled by prior conventional treatment., Competing Interests: CONFLICT OF INTEREST The author declares no conflicts of interest.

Objective: To investigate the effectiveness of free anterolateral thigh Kiss flap in repair of large scalp defect after malignant tumor resection., Methods: Between December 2012 and December 2016，18 patients with large scalp defect after malignant tumor resection were treated. There were 16 males and 2 females with an average age of 52.6 years (range, 43-62 years). There were 17 cases of squamous carcinoma and 1 case of dermatofibrilsarcoma protuberan. The size of scalp defect ranged from 15 cm×10 cm to 17 cm×12 cm after resection of tumors. The scalp defects were repaired with the free anterolateral thigh Kiss flap. And the size of flap ranged from 15 cm×6 cm to 20 cm×8 cm. The skull was completely resected in 2 cases, and repaired with Titanium mesh. The sizes of skull defects were 12 cm×10 cm and 10 cm×8 cm. The donor site was sutured directly., Results: Eighteen flaps survived with primary healing of wounds; and healing by first intention was obtained at the donor sites. One patient died because of intracranial metastasis at 5 months after operation, and no local recurrence occurred in the other 17 patients. The follow-up time ranged from 6 months to 4 years (mean, 26.6 months). The results of both appearance and function were satisfactory, without ulceration during follow-up. No obvious scar was found at donor sites and no obvious impairment was observed after harvesting free anterolateral thigh flap., Conclusion: Large scalp defects after malignant tumor resection can be effectively repaired by free anterolateral thigh Kiss flap. The donor site can be sutured directly, without skin grafting, thus avoiding the secondary donor site.

Competing Interests: Competing interests: None declared.

Objective: To observe the effects of axial vascular network flap of scalp or anterolateral thigh perforator flap with fascia lata on repairing defects after radical resection of scalp carcinoma in patients. Methods: From February 2006 to December 2015, twenty-one patients with scalp carcinoma were admitted to our hospital, and the carcinoma invaded external lamina or full-thickness of skull and dura mater. After perfect preoperative examination, carcinoma and scalp tissue in 3 to 5 cm from the edge of carcinoma, external lamina or full-thickness of skull and invaded dura mater were resected and sentinel lymph nodes around carcinoma were cleaned in 3 to 4 days after admission. The postoperative defects with size reached from 11 cm×8 cm to 22 cm×18 cm. The flap transplantation was performed at the same time when quick frozen pathological examination results of resected scalp carcinoma margin tissue, skull, dura mater margin and basal tissue, and sentinel lymph nodes showed completely negative. Defects in 3 elderly patients were repaired by single or multiple axial scalp vascular network flaps, with the resected flaps size ranged from 12 cm×7 cm to 19 cm×14 cm. Defects in the other 18 patients were repaired by anterolateral thigh perforator flaps with fascia lata, with the resected flaps size ranged from 13 cm×10 cm to 23 cm×19 cm and the resected fascia lata size ranged from 8 cm×7 cm to 10 cm×10 cm. The head donor site of flap was repaired by medium thickness skin of head and back; the thigh donor site of flap was repaired by medium thickness skin of thigh on the same side. All patients gave up postoperative radiotherapy, chemotherapy, and other follow-up treatments. Results: After operation, the flap and skin in all patients survived completely, with no vascular crisis or other condition. During the follow-up for 6 months to 9 years, all patients showed good appearance except for baldness in operation area of head, with no obvious malformation in head donor site of flap and skin, no swollen external hernia in the brain tissue, and no local recurrence or distant metastasis of carcinoma. The appearance of thigh donor site of flap and skin was good, with normal muscle strength and movement of lower limbs. Conclusions: Patients with scalp carcinoma were performed with radical resection of carcinoma, and axial vascular network flap of scalp or anterolateral thigh perforator flap with fascia lata were applied to repair the postoperative defects, with good appearance of head operation area and no local recurrence or distant metastasis of carcinoma.

Congenital arteriovenous malformations (AVMs) of scalp are rare congenital vascular malformations. They are usually not symptomatic at birth and are often misdiagnosed as haemangiomas. To date, only two cases of symptomatic neonatal scalp AVM have been reported in literature. Pathophysiology of congenital AVM is not completely understood but genetic and acquired causes are implicated. Diagnosis and management are often difficult and require multidisciplinary approach. We report a rare case of symptomatic congenital scalp AVM in a 10-day-old neonate who was successfully managed at our unit., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.)

Adams-Oliver syndrome is a rare disorder with varying degrees of scalp and cranial bone defects as well as limb anomalies, which can range from mild to more pronounced manifestations. In mild cases, closure of these defects can be achieved with a conservative approach. However, surgical closure is recommended in cases where the defect is extensive and includes cranial involvement. Several complicated cases of Adams-Oliver syndrome have been reported, in which flap failures were encountered and other alternatives had to be used to close critical scalp defects. Here, the case of a 4-year-old child with Adams-Oliver syndrome and a complex cranial defect with exposed titanium mesh is described. The patient was successfully treated with epidermal growth factor (EGF) infused foam dressings and subsequent split-thickness skin grafting. The EGF has been highlighted for its essential role in dermal wound repair through the stimulation of the proliferation and migration of keratinocytes, and showed accelerated wound healing when used in partial or full-thickness skin wounds.

Examines association of maternal methimazole use and congenital scalp defects. Overview of the cases.

Background: Although subgaleal hemorrhage can present very soon after delivery with catastrophic consequences, subaponeurotic or subgaleal fluid collections are rare and clinically distinct causes of infant scalp swelling that present weeks to months after birth. Their exact etiology remains uncertain; however, they are frequently associated with instrumental and traumatic delivery., Aim & Methods: To characterize 11 subaponeurotic fluid collections that presented to the Temple Street Children's University Hospital Emergency Department (TSCUHED) from July 2013 to July 2015 by a retrospective chart review., Case Report: Eleven infants were identified with delayed subaponeurotic fluid collections. Of note, all infants were either successful vacuum delivery or failed vacuum delivery with subsequent forceps delivery or emergency caesarean section. All infants were otherwise well at presentation, and resolution of the scalp swelling occurred within weeks to months. WHY SHOULD AN EMERGENCY PHYSICIAN BE AWARE OF THIS?: This condition follows a benign course and conservative management is the treatment of choice., (Copyright © 2016 Elsevier Inc. All rights reserved.)

Background/aims: The object of this report is to review the management of patients having the composite type of aplasia cutis congenita in the context of the relevant literature on this condition., Methods: Clinical records, neuroimaging and photographic documentation of identified cases of composite type aplasia cutis congenita, with a comprehensive review of the literature, are the material basis of this report., Results: Two neonates with composite type aplasia cutis congenita are described as examples of this disorder, and their management, including complications, is discussed. Both had satisfactory outcomes., Conclusions: Early aggressive surgical management with scalp rotation flaps has a low rate of complications, provides satisfactory functional and esthetic outcome, minimizes hospital stays, and should provide cost-effective care by reduction of the time to secure wound closure. Most bony defects, even large ones, commonly ossify completely. Optimal case management requires a synchronized neurosurgical and plastic surgical team. Intuitive nonsurgical and surgical approaches by the inexperienced can be hazardous., (© 2016 S. Karger AG, Basel.)

Background: The retinoid alitretinoin is a therapeutic option for chronic refractory hand eczema. Dryness of skin and mucosa, erythema, pruritus and alopecia are typical cutaneous side effects., Case Report: We report the case of a 44-year-old man whose head hair became curly while taking alitretinoin. Other causes could not be elicited as the patient was otherwise healthy, did not take any other drugs, and denied any specific physical or mental stress., Results: Until now there has been no report about hair curling under alitretinoin. Case reports exist for the retinoids acitretin, isotretinoin and etretinate and for other drugs such as valproat or EGFR tyrosine-kinase inhibitors. The underlying pathogenetic mechanisms are still unclear. With regard to retinoids, an influence on the keratinisation of the inner root sheath has been speculated; however further investigation will be needed to better understand the processes.

Aplasia cutis congenita (ACC) is a rare condition that occurs in around 0.01% of births. Characterized by a localized absence of skin, it affects the midline of the scalp in over 80% of cases. We describe the case of an infant born via vaginal spontaneous delivery with ACC affecting the scalp. This extended to the subcutaneous tissue and bone leaving the dura mater exposed. The patient was managed conservatively. At 4 weeks of age, she had a fatal superior sagittal sinus hemorrhage. In a review of the literature, we found ten previous cases of hemorrhage of the superior sagittal sinus complicating an ACC. Including our case, ACC complicated by hemorrhage of the superior sagittal sinus shows a 36% mortality (4/11). An analysis of these cases suggests that this tends to occur between 1 and 3 months of age, though it may occur in younger neonates.

The authors report a case of a female baby born with large congenital scalp and skull defects with exposure of the cranial arachnoid mater. The female patient was delivered by Caesarean section following diagnosis of a large cranial skin defect by ultrasound. The skin defect was present at the time of birth, measured 8.5  cm × 8.0  cm, and involved the full thickness of the cranium. The cranial arachnoid mater was exposed and veins running on the surface of the brain were observed. There was no means to cover the large defect surgically and conservative treatment was initiated. Complete epithelialization of the scalp defect was acquired without fatal problems. In the course of treatment, Mepilex Transfer was very effective. The repair of congenital defects of the scalp and skull is a major challenge not only because of the rarity but also because of severe morbidity. A surgical or conservative approach is chosen according to the situation. This rare case highlights two important clinical issues: that the congenital defects of the scalp and skull could not be managed with a surgical approach and in its place, a conservative approach using the special dressing Mepilex Transfer proved highly effective.

Acalvaria is a rare congenital malformation characterized by an absence of skin and skull. The authors describe a newborn at an estimated 38 weeks gestational age who was delivered via cesarean section from a 32-year-old mother. Upon delivery, the child was noted to have a frontal encephalocele and an absence of calvaria including skull and skin overlying the brain. A thin membrane representing dura mater was overlying the cortical tissue. After multiple craniofacial operations, including repair of the encephalocele and application of cultured keratinocytes over the rostral defect, the patient demonstrated significant closure of the calvarial defect and was alive at an age of more than 17 months with near-average development.

Adams-Oliver syndrome (AOS; OMIM 100300) typically comprises a combination of congenital scalp defects and terminal transverse limb defects. Recently, mutations in ARHGAP31 and RBPJ have been found causing autosomal dominant forms of AOS. We describe a four-generation pedigree with isolated terminal limb defects and a truncating mutation in ARHGAP31. This finding underscores the relevance of sequencing ARHGAP31 in similar cases of isolated limb defects, irrespective of the presence of a complete AOS phenotype. We also highlight the variability of clinical features among mutation carriers, ranging from severe reduction defects to mild as well as clinically unaffected cases suggesting reduced penetrance., (© 2014 Wiley Periodicals, Inc.)

A new-born male baby with typical features of Adams-Oliver syndrome (AOS) is described. Adams-Oliver syndrome is the association of aplasia cutis congenita with terminal transverse limb reduction defects with or without cutis marmorata telangiectatica congenita. The patient presented with brachydactyly involving all the digits of his hands and shortening of both big toes along with aplasia cutis on the scalp. There was no systemic involvement. The patient was placed on regular follow-up.

In this article the author discusses litigation over congenital scalp defects, providing examples of parents who believed the defects were injuries to their child's scalp as a result of the surgical induction of labor or a fetal scalp electrode.

Hair whorls are a normal characteristic of the human scalp and abnormally placed or absent whorls have been associated with cranial or neurologic abnormalities. We report a case of multiple whorls in a child with normal neurologic development. We also include a brief review of the literature on the development of hair whorls and their associations., (© 2013 Wiley Periodicals, Inc.)

Aplasia cutis congenita is a rare anomaly presenting with the absence of skin. No definite etiology is available. The most common site is the scalp. We present an instance with ACC occurring symmetrically in both sides of the body from chest to flank.

Scalp-ear-nipple (SEN) syndrome is a rare, autosomal-dominant disorder characterized by cutis aplasia of the scalp; minor anomalies of the external ears, digits, and nails; and malformations of the breast. We used linkage analysis and exome sequencing of a multiplex family affected by SEN syndrome to identify potassium-channel tetramerization-domain-containing 1 (KCTD1) mutations that cause SEN syndrome. Evaluation of a total of ten families affected by SEN syndrome revealed KCTD1 missense mutations in each family tested. All of the mutations occurred in a KCTD1 region encoding a highly conserved bric-a-brac, tram track, and broad complex (BTB) domain that is required for transcriptional repressor activity. KCTD1 inhibits the transactivation of the transcription factor AP-2α (TFAP2A) via its BTB domain, and mutations in TFAP2A cause cutis aplasia in individuals with branchiooculofacial syndrome (BOFS), suggesting a potential overlap in the pathogenesis of SEN syndrome and BOFS. The identification of KCTD1 mutations in SEN syndrome reveals a role for this BTB-domain-containing transcriptional repressor during ectodermal development., (Copyright © 2013 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.)