Search

everythingexperts & clinicslearnfaqsresearchcommunity

for

Search:↓

This case report describes a rare autosomal dominant hair shaft disorder, monilethrix, observed in three consecutive generations of a family, with gradual improvement noted with age.

This study identified 15 Iranian patients with PLEC variants linked to various plectinopathies and highlighted a novel association between a homozygous nonsense variant in PLEC and a rare combination of disorders including EB pruriginosa, muscular dystrophy, and congenital myasthenic syndrome.

This paper reviews different types of hair shaft dysplasias and does not report any new clinical findings.

This study suggests that a newly identified KRT 71 gene variant may be responsible for curly hair in Curly Coated Retrievers and potentially contributes to follicular dysplasia.

This case report highlights two cases of alopecia areata in patients with celiac disease, noting the rare occurrence of one patient also having acquired hypertrichosis lanuginosa, which may be the first documented instance of this combination in the literature.

This case report indicates that trichoscopy may significantly improve the diagnosis of Netherton syndrome by noninvasively identifying typical hair abnormalities without the need to pull hair.

This study identified a novel homozygous mutation in the 5'-UTR of the POMC gene, suggesting a new molecular mechanism for the syndrome of adrenal insufficiency, obesity, and red hair.

This review discusses Becker's Melanosis and Hypertrichosis in young males, summarizing cases observed in Melbourne with clinical and histological analyses, but reports no new clinical findings.

This article discusses the importance of routine karyotyping in patients with congenital adrenal hyperplasia, as it may reveal the presence of Turner syndrome and recommends early diagnosis and treatment; it reports no new clinical results.

This case report describes a 2-year-old girl with loose anagen syndrome type B, confirmed by painless trichoscopic examination, with no signs in her identical twin sister.

This study found that mice with a mutant CDP/Cux protein lacking the homeodomain showed severely impaired growth, high postnatal mortality, and reduced fertility, highlighting CDP/Cux's role in developmental regulation.

This report discusses a case of ichthyosis serpentina, suggesting it as a variant of ichthyosis associated with bamboo hair, although atopy may not be a necessary component.

Idiopathic hypoparathyroidism is rare and can be managed with dihydrotachysterol.

In this study, researchers found that the cornification process in the nuptial pads of Xenopus frogs involves the expression of the type II hair keratin homolog, krt59, and is regulated by the transcription factor hoxc13, showing similarities to mammalian hair evolution.

This letter to the editors describes a case of diffuse congenital hypotrichosis simplex with associated hair shaft fragility but reports no new clinical findings.

This article reviews monilethrix, a rare genetic hair disorder causing brittle hair and alopecia, and emphasizes the need for clinical diagnosis and characteristic tricoscopic findings.

Men can have genetic risks for PCOS-related traits like obesity and diabetes.

In this case report, a novel missense mutation c.1360G>C (p.Ala454Pro) in the MBTPS2 gene was identified in a boy with typical IFAP syndrome and severe atopic features, although no phenotype/genotype correlation was established.

This study found that Gsdma3 mutations in mice led to thicker skin and longer hair infundibula, possibly by negatively regulating β-catenin expression in the epidermis.

This study concluded that the digit-length ratio (2D:4D) does not predict androgenic alopecia development, suggesting prenatal androgen exposure does not predispose men to this condition.

AGD1 is important for root hair development in Arabidopsis, working with phosphoinositide signaling and the actin cytoskeleton.

This study found that hypospadias in male children is significantly associated with genetic polymorphisms in the Steroid 5 alpha reductase type 2 gene, higher parental age, consanguinity, rural residence, and preterm labor, with maternal age and rural residence being the strongest independent predictors.

In this study, single nucleotide polymorphisms in the RAB5B gene were linked to an increased risk of polycystic ovary syndrome and associated with specific microRNA binding sites.

In this study, scalp biopsies from HJMD patients revealed histological similarities to chronic telogen effluvium and highlighted the role of CDH3 mutations disrupting normal hair cycles.

This report describes a rare case of multiple trichofolliculomas on the face, which clinically resembled multiple trichoepitheliomas.

This study examined hair from a mixed-heritage family and suggested that variations in pigment formation significantly influence hair form, including the occurrence of twist-knots.

This review discusses various genetic and acquired conditions associated with poliosis circumscripta and reports no new clinical results.

This study found that metabolic syndrome or related metabolic issues are common among the family members of women with polycystic ovary syndrome.