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Variants of the diphthamide biosynthesis I (DPH1, OMIM*603527) are associated with developmental delay, short stature, and sparse hair syndrome (DEDSSH/DPH1 syndrome) (OMIM# 616901). Another name is Loucks-Innes syndrome. DPH1 syndrome is an ultrarare and severe neurodevelopmental disorder. Less than 20 patients were reported from different ethnicities. Here, we described the first Chinese adult with genetically confirmed DPH1 syndrome. We summarized previously reported patients in the literature and found that developmental delay, unusual skull shape, sparse hair, and facial dysmorphism were consistently present in all DPH1 syndrome patients. Dysplastic toenails and dental abnormalities are age-dependent characteristics of DPH1 syndrome. Our patient was the first reported patient with documented growth hormone deficiency. Dental and endocrine checkup should be considered in the routine follow-up of DPH1 syndrome patients.

Aim: The aim of this study was to review the craniofacial anomaly results of children diagnosed with ectodermal dysplasia (ED) and to identify the oral requirements of ED cases. Methodology: The data of this study were obtained by taking clinical examinations and radiographs on forty-four (44) children (22 females and 22 males), 0-16 years aged, who were admitted to the Dicle University, Faculty of Dentistry due to dental problems and were diagnosed with ED. The number of affected siblings was ascertained, and systemic findings were evaluated. Malformations in the hair, nails, nose, skin, lips, and teeth were clinically examined. Results: The most common clinical findings were sparse hair, dry skin, sweating problems, respiratory difficulty, saddle nose, a history of fever, hearing loss, and deformation in the nails. In the intraoral and radiological examinations, findings were evaluated of conical teeth, protuberant lips, prosthetic rehabilitation, impacted teeth, and abnormal root resorption. The rates of ED in the siblings of the ED cases were determined as 39.2% in the siblings of male cases and 37.9% in the siblings of female cases. Conclusion: The frequency rates of the anomalies seen in ED obtained in this study can be considered important as a guide for further studies of individuals with ED. When multiple missing teeth and conical teeth are encountered, the dental practitioner should investigate whether or not there are other symptoms of ED, and it must not be forgotten that the dentist may be the first step in the diagnosis of this genetic irregularity. How to cite this article: Akleyin E, Sarıyıldız Osmanoğulları C, Yavuz İ, Adıgüzel Ö. Ectodermal dysplasia: A retrospective evaluation of the clinical findings of forty-four cases in the 0-16 years age. Int Dent Res 2022;12(1):21-6. https://doi.org/10.5577/intdentres.2021.vol11.no1.4 Linguistic Revision: The English in this manuscript has been checked by at least two professional editors, both native speakers of English.

Hypotrichosis with juvenile macular dystrophy with (HJMD) is a rare, autosomal recessive disease characterized by sparse hair and macular dystrophy, that manifests itself in childhood (1). It is as...

Ectodermal dysplasias are a complex group of heterogenous, heritable disorders entailing two or more developmental abnormalities in ectodermal structures, such as hair, teeth, nails, and/or sweat glands. The most common subtype of these disorders is X-linked hypohidrotic that significantly impairs the quality of life of its sufferers. A 15-year-old boy, who sought the treatment for protuberant lips, saddle nose, dental anomalies, fine sparse hair, decreased sweating, intolerance to heat and photosensitivity, experienced dramatic improvement in his quality of life and confidence with aesthetic correction comprising autologous fat grafting, rhinoplasty, lip reduction, microblading and comprehensive prosthodontic and orthodontic treatments undertaken in collaboration with dental and plastic surgery departments and expert psychological counseling.

Autosomal recessive woolly hair/hypotrichosis (ARWH/H) is a rare nonsyndromic hair abnormality characterized by sparse, short, and curly hair. we report a case of a 5-year-old girl from consanguineous parents, who presented with ARWH/H since birth. Dermoscopic findings showed thin sparse hair. Genetic testing showed homozygous mutation in the LPAR6 gene.

Focal dermal hypoplasia (FDH) or Goltz syndrome is a rare X-linked dominant multisystemic disease involving the ectoderm, mesoderm, and endoderm. About 95% of the cases appear de novo, and 90% of them are females. Recently, the studies revealed that FDH is caused by a mutation in the PORCN gene. We report a case of unilateral FDH or Goltz syndrome in a 16-year-old girl presenting with hypopigmented-reticulated atrophic macules and patches in a linear pattern distributed along the lines of Blaschko over the right side of the face and the right arm. Also she is having hypoplasia of the right breast with dental enamel abnormality and partial anodontia in the lower jaw. Sparse hair and partial alopecia on the right side (scalp, eyebrows, and eyelashes) were also observed.

Wiedemann-Rautenstrauch syndrome (WRS) is a neonatal progeroid disorder characterized by growth retardation, lipodystrophy, a distinctive face, and dental anomalies. Patients reported to date demonstrate a remarkable variability in phenotype, which hampers diagnostics. We performed a literature search, and analyzed 51 reported patients, using the originally reported patients as "gold standard." In 15 patients sufficient information and photographic evidence was available to confirm the clinical diagnosis. In 12 patients the diagnosis was suggestive but lack of data prevented a definite diagnosis, and in 24 patients an alternative diagnosis was likely. Core manifestations of the syndrome are marked pre-natal and severe post-natal growth retardation, an unusual face (triangular shape, sparse hair, small mouth, pointed chin), dental anomalies (natal teeth; hypodontia), generalized lipodystrophy with localized fat masses, and-in some cases-progressive ataxia and tremor. It has been suggested that the syndrome might be caused by biallelic variants in POLR3A, identified by exome sequencing in a single patient only. Therefore, we compared the WRS phenotype with characteristics of conditions known to be caused by autosomal recessively inherited POLR3A mutations. There are major differences but there are also similarities in phenotype, which sustain the suggestion that the syndrome can be caused by disturbed POLR3A functioning.

Ectodermal dysplasia is a hereditary disorder characterized by developmental dystrophies involving the ectodermal derivatives characterized by triad of signs comprising sparse hair, missing or abnormal teeth and inability to sweat. Ectodermal dysplasia may be divided into the Hypohidrotic form (x-linked recessive) and the Hydrotic form (Autosomal inherited).Here we present a case of a 34 years male with Hypohidrotic ectodermal dysplasia with partial anodontia of maxillary arch and complete anodontia of mandibular arch. Keyword: Hydrotic, Ectodermal Dysplasia, Hypohidrosis.

Objectives To report the surgical technique of seed skin grafting and clinical application for reconstruction of wounds on the distal limb of client‐owned dogs. Materials and Methods Medical records from The Animal Hospital at Murdoch University were retrospectively reviewed for dogs requiring reconstruction using seed grafting for distal limb skin defects between January 2009 and May 2020. Results Fifteen dogs were included. Grafting was performed on distal limb wounds at or below the carpus or tarsus, following trauma (n = 12) or neoplasia excision (n = 3). Complete epithelialisation with minimal contracture was recorded at a median of 4 weeks (range 3 to 8 weeks) after implantation. Median follow‐up was 37 months (range 3 to 55 months) after grafting. Postoperative complications included epidermal inclusion cyst in two dogs. Good functional outcome with acceptable cosmesis despite sparse hair growth was achieved in all cases. Clinical Significance Seed grafting is a simple technique that can be used reliably to reconstruct wounds on the distal limb in dogs where other reconstructive techniques are not suitable. Complete epithelialisation with sparse hair growth, good long‐term functional outcome and minimal complications can be expected.

Bohring-Opitz syndrome (BOS) is a rare genetic disorder, characterized by feeding difficulties, developmental delay, microcephaly, micrognathia, limb anomalies, and typical phenotypic facial features. The cause of the syndrome is identified as de novo heterogeneous mutations in the ASXL1 gene, but other mutations have been described in some patients. Most patients die in early childhood due to infections and comorbidities. As molecular confirmation by genetic studies is not always possible, this syndrome is diagnosed on the basis of distinctive clinical features. We report a case of the 6-month-old male child having gastroesophageal reflux and physical features of microcephaly, sloping forehead, sparse hair, craniosynostosis, telecanthus, hypertelorism, prominent eyes, posteriorly rotated ears, high-arched palate, micrognathia, pes planus, and typical BOS posture. A multidisciplinary approach is required for managing these patients.

Anhidrotic Ectodermal Dysplasia with Immunodeficiency (EDA-ID) is a pleotropic disorder characterized by dental abnormalities, eccrine sweat dysgenesis, specific facies, fine sparse hair, pale wrinkled skin, and variable immune defects. The condition is caused by hypomorphic mutations (NF) κB Essential modifier protein (NEMO) gene. The clinical phenotype between patients is heterogenous and variable.Here we report a patient with a known NEMO mutation presenting with clinical features consistent with EDA-ID, except for paradoxical hyperhidrosis despite having a biopsy-proven reduced number of sweat glands.Statement of novelty: We report a patient with X-linked EDA-ID due to NEMO deficiency who presented with marked diaphoresis despite biopsy-proven reduced sweat glands and ectodermal dysplasia.

Ectodermal dysplasia (ED) syndrome is a rare genetic disease that involves a heterogeneous group of hereditary disorders that occur as a result of mutations in genes that code for development of fetal ectoderm and lead to numerous disorders. Defects in the development of the ectoderm cause symptoms in tissues derived from the ectoderm layer, such as skin, nails, hair, and teeth. Because many pathways are involved in the development of the ectoderm, there are mutations in many genes that cause ED. Owing to the heterogeneity of ED, there are different types of the disease that have different symptoms. These symptoms include sparse hair, abnormal or missing teeth, nail dystrophy, lack of sweating owing to the absence of sweat glands, and cancer. In this review, in addition to discussing the role and pathway of each of the genes involved in ED, the incidence of cancer in these patients, diagnostic methods and differentiation from other similar diseases, and the treatments currently being performed for ED are discussed.

DPH1 variants have been associated with an ultra-rare and severe neurodevelopmental disorder, mainly characterized by variable developmental delay, short stature, dysmorphic features, and sparse hair. We have identified four new patients (from two different families) carrying novel variants in DPH1, enriching the clinical delineation of the DPH1 syndrome. Using a diphtheria toxin ADP-ribosylation assay, we have analyzed the activity of seven identified variants and demonstrated compromised function for five of them [p.(Leu234Pro); p.(Ala411Argfs*91); p.(Leu164Pro); p.(Leu125Pro); and p.(Tyr112Cys)]. We have built a homology model of the human DPH1-DPH2 heterodimer and have performed molecular dynamics simulations to study the effect of these variants on the catalytic sites as well as on the interactions between subunits of the heterodimer. The results show correlation between loss of activity, reduced size of the opening to the catalytic site, and changes in the size of the catalytic site with clinical severity. This is the first report of functional tests of DPH1 variants associated with the DPH1 syndrome. We demonstrate that the in vitro assay for DPH1 protein activity, together with structural modeling, are useful tools for assessing the effect of the variants on DPH1 function and may be used for predicting patient outcomes and prognoses.

Background Nicolaides–Baraitser and Coffin–Siris syndromes are emerging conditions with overlapping clinical features including intellectual disability and typical somatic characteristics, especially sparse hair, low frontal hairline, large mouth with thick and everted lips, and hands and feet anomalies. Since 2012, mutations in genes encoding six proteins of the BAF complex were identified in both conditions. Methods and results We have clinically evaluated a cohort of 1161 patients with intellectual disability from three different Italian centers. A strong clinical suspicion of either Nicolaides–Baraitser syndrome or Coffin–Siris syndrome was proposed in 11 cases who were then molecularly confirmed: 8 having de novo missense mutations in SMARCA2 , two frame-shift mutations in ARID1B and one missense mutation in SMARCB1 . Given the high frequency of the condition we set up a one-step deep sequencing test for all 6 genes of the BAF complex. Conclusions These results prove that the frequency of these conditions may be as high as the most common syndromes with intellectual deficit (about 1%). Clinical geneticists should be well aware of this group of disorders in the clinical setting when ascertaining patients with intellectual deficit, the specific facial features being the major diagnostic handle. Finally, this work adds information on the clinical differences of the two conditions and presents a fast and sensitive test for the molecular diagnosis.

Congenital atrichia with papular lesions (APL) is a disease characterized by the complete absence of hair from the whole body occurring within a few months of birth and the presence of papules distributed over the body. A 9-year-old boy presented with sparse hair over his body and with a history of losing his hair soon after birth. Multiple skin-colored papules were observed over the scalp. A biopsy from a papule showed keratinous cysts in the dermis and the absence of hair follicles. A diagnosis of congenital APL was made after vitamin D-dependent rickets was excluded. This case highlights congenital APL as a cause of total alopecia.

The trichorhinophalangeal syndrome is a rare genetic disorder with a classical clinical triad of sparse hair, bulbous nose, and short digits. There are three known phenotypes, and the type II with exostoses in long bones is known as Langer-Giedion syndrome. Here, we describe a 28-year-old Sri Lankan male with Langer-Giedion syndrome and high-functioning autism. The karyotype found a microdeletion of the long arm of chromosome 8 with mosaicism [46,XY/46,XY,del(8)(q24.1q24.3)]. This is probably the first report of Langer-Giedion Syndrome with autism and the first report of the genetic syndrome from Sri Lanka. Furthermore, we could only access one previous report of the same microdeletion, which was from an autopsy of a 36-week-old infant.

We report an Indian girl with split-hand/foot malformation (SHFM), sparse hair, and interrupted eyebrows, who carries a novel homozygous deletion c.695_697delACA in WNT10B. The variant is deduced to cause an in-frame deletion of Asn residue 232 (p.Asn232del). According to the protein model, this single amino acid deletion at the critical position in the protein structure is likely to severely affect the protein structure and function. This deletion is likely to lead decreased lifetime and make it unable to bind to its receptors and other ligands. The patient and all family members had normal bone density and they were not obese like some of the patients with WNT10B variants. Here we report a patient with SHFM6 who carried a novel WNT10B mutation. Sparse hair and interrupted eyebrows may be associated findings of SHFM6.

The Ectodermal Dysplasia comprises a large, heterogeneous group of inherited disorders that are defined by primary defects in the development of two or more tissues derived from embryonic ectoderm. The tissues primarily involved are the skin, hair, nails, eccrine glands and teeth. The X-linked recessive ED (Christ-Siemens-Touraine syndrome) is the most common disorder; it affects males and is inherited through female carriers. It is characterized by the triad of signs comprising sparse hair (atrichosis or hypotrichosis), abnormal or missing teeth (anodontia or hypodontia) and inability to sweat due to lack of sweat glands (anhidrosis or hypohidrosis). The lack of teeth and the special appearance were reported to be major concerns. Two case reports illustrating the typical features of anhidrotic ectodermal dysplasia have been presented. Since there is no definitive treatment for the disease, an early prompt diagnosis and a multidisciplinary approach in planning a treatment can improve the quality of life of the patient.

Ectodermal dysplasias (EDs) are a heterogeneous group of disorders characterized by developmental dystrophies of ectodermal structures. The X-linked recessive ED (Christ-Siemens- Touraine syndrome) is the most common disordered (80%of EDs); it affects males and is inherited through female carriers. It is characterized by the triad of signs comprising of sparse hair (atrichosis or hypotrichosis), abnormal or missing teeth (anodontia or hypodontia) and inability to sweat due to lack of sweat glands (anhidrosis or hypohidrosis). The lack of teeth and the special appearance were reported to be major concerns. The incidence in male is estimated at 1 in 100,000 births, the carriers-incidence is probably around 17.3 in 100,000 women. Early dental intervention can improve patient's appearance, thereby minimizing the associated emotional and psychological problem in these patients. Treatment requires team work by medical personal along with dental professionals. This clinical report describes the prosthetic rehabilitation of 24-year-old male patient with multiple missing and malformed teeth along with other classical oral and general manifestation

Anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) is characterized by hypohidrosis, dental abnormalities, sparse hair, and immunodeficiency. Autosomal dominant (AD)-EDA-ID, caused by a heterozygous mutation within NFKBIA, is very rare and its clinical features remain largely unknown. This study describes a patient with AD-EDA-ID harboring a novel NFKBIA mutation who presented with mild EDA and non-infectious systemic inflammation.The clinical presentation of an AD-EDA-ID patient was described and immunological, genetic, and biochemical analyses were performed, with a focus on nuclear factor kappa B (NF-κB) activation.The patient presented with symptoms of mild EDA-ID, namely sparse hair and hypohidrosis, although a skin biopsy confirmed the presence of sweat glands. There were no dental abnormalities. The patient also suffered from non-infectious inflammation, which responded to systemic corticosteroid therapy; however, the patient remained ill. Immunological analyses revealed reduced Toll-like receptor/IL-1 (TLR/IL-1) and tumor necrosis factor (TNF) receptor family responses to various stimuli. Genetic analysis identified a de novo heterozygous missense mutation, p.Ser36Tyr, in NFKBIA, resulting in defective NFKBIA degradation and impaired NF-κB activation. The patient was diagnosed with AD-EDA-ID and underwent hematopoietic stem cell transplantation. Engraftment was successful, with few signs of acute graft versus host disease. However, the patient suffered hemolytic anemia and thrombocytopenia, and died from a brain hemorrhage due to intractable thrombocytopenia.AD-EDA-ID patients can present with mild ectodermal dysplasia and non-infectious inflammation, rather than with recurrent infections. Also, hematopoietic stem cell transplantation for AD-EDA-ID is still a clinical challenge.

Ellis-van Creveld (EVC) syndrome is a genetic disorder with autosomal recessive transmission, which may clinically present as small stature, short limbs, fine sparse hair, hypoplastic fingernails, multiple musculofibrous frenula, conical teeth, hypoplasia of the enamel, hypodontia, and malocclusion. Heart defects, especially abnormalities of atrial septation, have been found in about 60% of cases. The mutation in EVC and EVC2 gene is responsible for this syndrome. The presence of multiple orodental findings makes this syndrome important for dentists. The aim of this article is to present a rare case of EVC syndrome in a 10-year-old girl along with the review of literature.

2q33 deletions are considered to constitute a distinct clinical entity (Glass syndrome or 2q33 microdeletion syndrome) with a characteristic phenotype. Most patients have moderate to severe developmental delay, speech delay, a particular behavioural phenotype, feeding problems, growth restriction, a typical facial appearance, thin and sparse hair, tooth abnormalities, and skeletal anomalies. Here, we report on a patient with a 2q33.1q34 deletion spanning 8.3 Mb of genomic DNA. Although her clinical features are very reminiscent of the 2q33 microdeletion syndrome, she also presented with brain and anorectal malformations. Based on the present and published patients with 2q33 deletions, we suggest that the critical region for the Glass syndrome may be larger than initially proposed. Moreover, we suggest that brain abnormalities might be an additional feature of the 2q33 microdeletion syndrome, but that anorectal malformation is likely not a key marker.

Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive genodermatosis. While its incidence is unknown, approximately 300 cases have been reported in the literature. The syndrome typically presents with a characteristic facial rash (poikiloderma), its diagnostic hallmark, and heterogeneous clinical features including congenital skeletal abnormalities, sparse hair distribution, juvenile cataracts, and a predisposition to osteosarcoma. This is a report describing a patient diagnosed with RTS referred to us because of low vision and red eyes.

Ectodermal DyspIasia(ED) is a rare hereditary disorder which is characterized by triad of signs comprising sparse hair, abnormal or missing teeth and inability to sweat. This article comprises of 2 such cases one of a 5 year old child with hypohydroic ectodermal dysplasia and a 15 year old female patient of clustons syndrome. This paper also highlights about history, clinical features, differential diagnosis and treatment options of such patients

Rapp-Hodgkin syndrome is a rare form of ectodermal dysplasia involving the hair, eyes, sweat glands, nails,teeth and palate. This syndrome is characterized by stiff, sparse hair with the appearance of steel wool,sparse eyebrows and lashes, cleft palate, absence of lacrimal punctae, epiphora, a decreased number of sweat glands, and dystrophic nails. Cleft palate, hypodontia, abnormal tooth shape, multiple caries, delayed eruption of teeth are the main oral manifestations. In this paper we describe the clinical and dental findings of this syndrome in a 7 year old girl referred to the dental clinic because of severe tooth ache. The dental treatment included root canal treatment, composite restorations, extractions and removable prostheses. This paper highlights features of Rapp-Hodgkin Syndrome and its dental rehabilitation.

The case of a female infant with athelia is reported. Her mother, maternal aunt and grandmother show hypodontia, sparse hair and small breasts associated with mammillary hypoplasia. The clinical features and the results of MINOR's sweat test suggest a heterozygous state of anhidrotic ectodermal dysplasia as the most likely explanation.

The appearance of an individual's hair is said to be reflective of internal health. Patients with hair shaft disorders commonly present with fragile, lusterless, sparse hair in addition to psychosocial distress. Hair shaft disorders may be hereditary or acquired and may present in children or adults. Due to the varied presentations, the differential diagnosis for hair is broad and often confusing. The authors present a question-by-question guide to help clinicians arrive at the correct diagnosis.

Pityriasis rubra pilaris (PRP) is a poorly understood dermatologic condition usually accompanied by keratoderma and intense erythroderma with islands of unaffected skin. The PRP categories include HIV-associated PRP VI. A 23-year-old HIV-infected, dark-skinned woman in the Dominican Republic developed an extremely severe, disfiguring process characterized first by a dry scaly rash involving her face, trunk, and extremities with hyperpigmentation and islands of spared skin and minimal erythroderma, followed by alopecia and development of a thick horny layer on the scalp and face. The condition, histologically proven to be PRP, was accompanied by fever, wasting, and decline in CD4 count. Initiation of combination antiretroviral therapy (cART) was followed by rapid and sustained resolution of PRP. Nine years after ART initiation, she remains well, with viral suppression and immune recovery, without PRP recurrence but with sparse hair regrowth and facial scarring. In some dark-skinned patients, severe PRP may not feature characteristic erythroderma but will respond to combination ART.

We report a boy with severe developmental delay, microcephaly and characteristic facial dysmorphism consisting in round face, hypertelorism, upslanted palpebral fissures, small nose, large mouth, micrognathia, sparse hair and eyelashes. Array-CGH revealed a de novo duplication of 103 kb within 17q21.2 not reported to date. The duplication includes 8 genes: DHX58, KAT2A, HSPB9, RAB5C, KCNH4, HCRT, GHDC and STAT5B. Three genes (KATA2, KCNH4, and STAT5B) may contribute to intellectual deficiency. Further observations will be necessary to confirm the specificity of the facial Gestalt.

Trichorhinophalangeal dysplasia (TRPD) is a genetic disease, characterized by sparse hair, severe metacarpo-phalangeal shortness, beaked nose, long upper lip, and short height. In this report, we experienced bilateral total hip arthroplasty (THA) in a patient with TRPD.A 55-year-old female visited our hospital because of bilateral hip pain. On the initial visit, the following characteristic features were noted : sparse hair, severe metacarpo-phalangeal shortness, beaked nose, long upper lip, and short height (138.6cm). Remarkable findings were not found in family and past histories. Radiographs showed dislocated hip joint with deformed femoral head and severe osteoarthritic changes. She underwent bilateral THA (right side first and left second) by transtrochanteric approach in a two months interval. Postoperative rehabilitation was performed according to conventional course.Six months after final operation (left hip), she is ambulatory with no assistance and satisfied with the operative results.

Monilethrix is a rare autosomal dominant hair shaft disorder with variable expressivity. It usually presents with short broken scalp hairs and follicular hyperkeratosis. Light microscopy of hair reveals a beaded appearance. Here, we report the case of a 32-year-old male who presented with sparse hair and follicular keratotic papules in the absence of any family history.

In 1993, Nicolaides and Baraitser reported a new condition consisting of short stature, hypotrichosis, brachydactyly with cone-shaped epiphyses, epilepsy and severe mental delay. We report here two unrelated patients with identical features, thus confirming the status of this rare disorder of unknown aetiology.