Search

everythingexperts & clinicslearnfaqsresearchcommunity

for

Search:↓

This article presents a family case study of dermatopathia pigmentosa reticularis linked to a specific KRT14 gene variant, detailing symptoms and stressing the importance of molecular diagnosis for management.

In this study, two unrelated Honduran patients with Sjögren-Larsson syndrome had the same genetic mutation but displayed different disease severities, suggesting that factors beyond the ALDH3A2 mutation influence clinical outcome.

This study found that the absence of Sostdc1 in mice alters mammary gland and hair follicle development, particularly by increasing vibrissae numbers and causing unusual nipple-like structures.

This case report describes an 18-year-old man with pili annulati, characterized by a "shagreened" appearance of the hair shaft with alternate bright and dark bands and wide holes throughout the cortex.

This study identified a missense variant in the EDA gene of a male cat, which likely caused hypohidrotic ectodermal dysplasia, characterized by hair and teeth abnormalities; this represents the first report of such a genetic condition in cats.

This study found that relatives of women with symptoms of oligo-amenorrhoea and hirsutism experienced higher rates of hirsutism, menstrual disorders, infertility, childlessness, diabetes, and hypertension compared to relatives of symptomless women.

Acquired perforating dermatosis often affects skin in people with kidney issues and diabetes.

This study suggests that longer GGN repeat polymorphisms in the androgen receptor gene are associated with polycystic ovary syndrome in women.

This study found that mutant Cx43 impairs fibroblast function during wound healing and reduces hair follicle cell proliferation, likely contributing to hair growth defects in ODDD patients.

This case study reports a 6-year-old girl developing acquired progressive kinking hair syndrome, likely induced by sodium valproate, marking it as the first documented instance linked to this medication.

This study found a novel R430Q gene mutation in hHb6, which may be linked to the hereditary hair disorder monilethrix in the examined family.

This study found that among women with polycystic ovary syndrome, higher age, obesity, hirsutism, and having children were independently associated with increased metabolic risk.

This study found that the desmosomal protein desmoplakin is crucial for proper epidermal morphogenesis and radial intercalation in developing Xenopus embryos, affecting keratin organization and ectodermal structures.

This study found that desmosomal adhesion plays a crucial role in epithelial morphogenesis and cell positioning, equivalent in importance to that of adherens junctions.

This study found that in women with polycystic ovary syndrome, shorter CAG repeat lengths in the androgen receptor gene were associated with lower dihydrotestosterone and androstenedione levels, but a higher prevalence of acne and hirsutism.

In this study, adolescent females who were born via cesarean delivery, had at least one erupted wisdom tooth, or had central obesity were more likely to develop polycystic ovarian syndrome.

This study describes the first case of female pseudohermaphroditism due to a novel homozygous glucocorticoid receptor gene mutation, indicating possible pre- and postnatal virilization in affected females.

This study demonstrates that PAD1 and PAD3 are involved in hair follicle differentiation, while PAD1 and PAD2 may play a role in the physiology of sweat glands and arrector pili muscles.

This study found that misexpression of Hoxc8 in mice led to ectopic mammary development and suggests Hox genes may play crucial roles in the regional specification and initiation of cutaneous accessory organs.

This study identified a new PNPLA1 mutation in a Spanish family with autosomal recessive congenital ichthyosis.

Type I keratin genes are closely linked to the rex locus on mouse chromosome 11, affecting hair development.

This study reported the first case of a NIPAL4 c.527C>A mutation in Romanian patients with autosomal recessive congenital ichthyosis, finding that NIPAL4 mutations are more common than TGM1 mutations in this population.

This article reviews the history and characteristics of the rare nude phenotype SCID, primarily distinguished by severe T cell immunodeficiency and notable skin and hair abnormalities, but reports no new clinical findings.

In this study, researchers observed that twins with a novel de novo nonsense variant in HRAS exhibited distinctive features, including neuropsychiatric symptoms, potentially indicating a wider clinical spectrum for conditions known as RASopathies.

This study found that BBS7 is important for Sonic hedgehog signaling activity, which may be crucial for maintaining periodontal ligament homeostasis in occlusal hypofunction.

This report describes the first documented case of cutaneous asthenia in a crossbred spayed cat from Turkey, characterized by hyperelastic skin, alopecia, and an ulcerative wound.

In this study, researchers observed that the epidermal specializations on the tail scales of Lygodactylus lizards, including sensory organs and specific secretory glands, are fully restored with similar structure and distribution on regenerated tails.

This case report describes a 68-year-old woman with benign mucous membrane pemphigoid and unusual keratotic plaques on her extremities, associated with longstanding mouth and eye symptoms and phalangeal swelling.