Search

everythingexperts & clinicslearnfaqsresearchcommunity

for

Search:↓

This study describes three new cases of MCOPS6 with BMP4 variants, noting expanded phenotypic variability but no clinically apparent microphthalmia in these individuals, which is commonly reported in the disorder.

Bardet-Biedl syndrome may include under-recognized skin problems related to its metabolic disturbances.

This study demonstrated that blocking the Sonic hedgehog signaling pathway in mice led to reversible inhibition of body coat hair morphogenesis, while whisker development was unaffected.

This article discusses the rising prevalence and serious implications of childhood obesity and reports no new experimental findings; the authors emphasize the importance of prevention and early intervention through comprehensive management programs.

This study found that modulating BMP activity in transgenic mice affects the development and characteristics of several ectodermal organs, such as skin, hair, and claws, highlighting a stage-dependent influence on organogenesis.

This article reviews major types of genetic hair shaft defects and associated syndromes, emphasizing understanding histologic features and diagnostic methods, but reports no new clinical findings.

This study reports a case of Ellis van Creveld syndrome in a 40-year-old Iranian woman, highlighting uncommon features such as pectus excavatum, Phrygian cap gallbladder, liver hemangioma, polycystic ovarian disease, and breast fibrocystic cysts.

This article presents an overview of uncombable hair syndrome, emphasizing its clinical and molecular characteristics and noting systemic manifestations such as neuropsychiatric, ophthalmic, and cardiopulmonary issues.

This study suggests that a position effect disrupting TRPS1 expression may be linked to hypertrichosis in both Ambras syndrome in humans and a similar phenotype in Koa mice.

This review discusses the causes and clinical presentations of ptosis in childhood and reports on several observed cases, but provides no new clinical results.

This study diagnosed a group of six girls with various ectodermal abnormalities, identifying cranio-skeletal malformations consistent with focal dermal hypoplasia (Goltz syndrome), and found heterozygous mutations in the PORCN gene in two children.

This abstract compiles a list of medical syndromes and conditions related to tongue abnormalities and other systemic features but reports no new research findings.

This article reviews the connection between PI3K-AKT-mTOR pathway mutations and heritable skin diseases characterized by tissue overgrowth, but it reports no new clinical results.

In this in silico study, researchers analyzed nonsynonymous SNPs in the LIPH gene linked to hypotrichosis and identified three potentially harmful variants (W108R, C246S, and H248N) out of 215 total, using sequence- and architecture-based bioinformatics techniques to differentiate between harmful and benign SNPs.

This study identified a novel V26M mutation in the vitamin D receptor as the cause of hereditary vitamin D resistant rickets in a patient, characterized by severe rickets and an unusual pattern of alopecia.

Many are open to telemedicine for hair loss if combined with in-person visits and better technology.

This clinical study compared single-layer and multiple-layer wound closure after tympanoplasty, finding that single-layer closure was as effective but took less time and reduced surgery costs for patients with chronic suppurative otitis media.

This study found a novel PAX9 gene mutation that may cause tooth agenesis and trichodysplasia in a studied family.

In this study, researchers found that the congenital absence of the palmaris longus muscle was relatively uncommon and showed no significant differences according to sex, side, or digit ratio (2D:4D) among individuals assessed using MRI and radiographs.

This case series highlighted three pediatric patients with congenital nail anomalies, revealing underlying developmental or genetic issues such as symbrachydactyly and potential Adams–Oliver syndrome, underscoring the critical role of dermatologists in early detection and diagnosis of these conditions.

This case study reports that a heterozygous missense GJA1 mutation, p.Gly138Ser, in a 2-year-old boy with oculodentodigital syndrome primarily resulted in syndactyly, fifth finger hypoplasia, and hypotrichosis, without neurological or craniofacial abnormalities.

This report presents a case of a seven-year-old girl with porokeratotic adnexal ostial nevus manifesting as hyperkeratotic verrucous papules on her left foot.

This article presents a case of Olmsted syndrome in a 5-year-old boy, adding to the limited number of reported cases of this rare keratinization disorder.

This study reports the first cases of recessive KRT17-related pachyonychia congenita involving all ectodermal derivatives in seven members of two consanguineous Pakistani families.

This letter to the editor discusses a case of delayed-onset pachyonychia congenita linked to a new mutation in keratin 6b but presents no new research findings.

This case report describes a 27-year-old male with autoimmune polyglandular syndrome type 1, characterized by symptoms including fever, dysarthria, dysphagia, oral candidiasis, nail dystrophy, alopecia, hypoparathyroidism, and dilated cardiomyopathy. The study highlights unique bilateral symmetrical brain calcifications and underscores the syndrome’s diverse manifestations.

Elkonyxis, a rare nail condition, improved when patients stopped their nail-picking habits.

This study reports a rare case of polyorchidism in a 96-year-old male cadaver, suggesting a new classification based on anatomical and histological findings to aid in accurate diagnosis.

This review suggests the existence of a new syndrome characterized by keratosis pilaris, ulerythema ophryogenes, and monosomy 18p, emphasizing its potential utility in diagnosing monosomy 18p.

This case report describes a Thai male with TRPS1 who exhibited unique and unreported features such as hypoplastic mandibular condyles, double mental foramina, and distinctive hair abnormalities.