Search

everythingexperts & clinicslearnfaqsresearchcommunity

for

Search:↓

This letter to the editor presents a case of non-Herlitz junctional epidermolysis bullosa associated with a COL17A1 mutation and reports no new clinical findings.

This article reviews Cronkhite-Canada syndrome as a distinct condition from Peutz-Jeghers syndrome and familial polyposis, with cases showing gastrointestinal polyposis, skin, hair, nail abnormalities, and hypoproteinemia.

Minoxidil solution applied twice daily improved hair growth in patients with Woolly Hair/Hypotrichosis due to LIPH gene issues, with mild side effects.

This study reports that a novel gain-of-function mutation in TMEM173, combined with polymorphisms in TMEM173 and IFIH1, results in a distinct clinical phenotype with features of SAVI, including alopecia and photosensitivity.

In this study, researchers found that the KLHL24-ΔN28 protein variant disrupts hair follicle stem cells in a mouse model, leading to premature hair loss by degrading keratin 15.

A heart transplant patient developed a skin condition called epidermodysplasia verruciformis after taking immune-suppressing drugs.

This case study reported TSPyV DNA detection in blood and urine samples before trichodysplasia spinulosa skin lesions developed in a kidney transplant patient under immunosuppressive therapy.

In this study, researchers identified loss of function variants in the HR gene as likely causes of the distinct roaning hair coat seen in lykoi cats.

This study identified a novel G207E STING mutation causing a distinct phenotype involving alopecia, photosensitivity, and thyroid dysfunction, and suggests that common polymorphisms in TMEM173 and IFIH1 may influence disease presentation.

This case study describes a 7-month-old boy diagnosed with keratitis-ichthyosis-deafness syndrome due to a de novo GJB2 gene mutation, highlighting the challenges in treatment and eventual fatal outcome due to severe complications.

The researchers reported that the OVOL1-OVOL2 axis may play a role in hair follicle differentiation and tumorigenesis, and OVOL1 and OVOL2 are potential diagnostic markers for pilomatricoma and pilomatrix carcinoma.

This case study describes a 59-year-old man with scurvy, initially misdiagnosed as leukocytoclastic vasculitis, who showed rapid improvement after vitamin C supplementation; it reviews scurvy's biochemical basis, symptoms, and management.

This study reports the first case of diverse medium-sized visceral arterial aneurysms in a patient with functionally impaired A20, potentially linked to HA20, and its atypical presentation in East Asia.

This case report highlights a rare presentation of APS-1 in a 28-year-old Pakistani male with cardiovascular and pulmonary symptoms, illustrating the importance of early recognition and multidisciplinary management for improved patient outcomes.

Netherton syndrome can cause severe and chronic vulvovaginal symptoms that may improve with continuous oral contraceptives.

This case report highlights a 60-year-old patient's diagnosis with Cronkhite-Canada syndrome, characterized by gastrointestinal polyps, diarrhea, weight loss, brittle nails, alopecia, and skin changes, which showed improvement with treatment.

This case report describes the first known instance of a dilated pore of Winer, a type of follicular cyst, identified in a dog, specifically a 9-year-old neutered Goldendoodle, which was surgically excised after causing pain due to periodic ruptures.

This study in a Pakistani family identified a novel ST14 gene variant as the likely genetic cause of autosomal recessive ichthyosis with hypotrichosis syndrome.

This study found that haploinsufficiency of SPINK5 can lead to Netherton syndrome when a single null mutation combines with homozygous G1258A polymorphisms, suggesting it acts as a genuine mutation affecting LEKTI function.

This study found that a mutation in the seventh exon of the KRT86 gene plays a major role in the pathogenesis of monilethrix in a Chinese family.

The man has a disease causing skin patches, thickened nerves, and mild muscle weakness.

This case report presents a rare instance of Winer's dilated pore in a 51-year-old female, emphasizing its pathological features and the need for accurate differential diagnosis to avoid misinterpreting it for more serious conditions.

This article discusses the clinical presentation, histopathologic findings, and pathogenesis hypotheses of vitiligo without reporting new clinical results.

In this study, researchers observed that Vdr-knockout mice experience hair cycle arrest during the catagen stage, leading to alopecia, with persistent epithelial strands forming in the hair follicles, indicating Vitamin D receptor's role in regulating hair follicle regression and regeneration.

This case report describes a 3-year-old boy with trichothiodystrophy, highlighting specific MRI findings of diffuse dysmyelination and osteosclerosis that may be unique to the disorder.

In this study, researchers identified PSENEN mutations that can lead to a form of Dowling-Degos disease, characterized by follicular hyperkeratosis and an increased susceptibility to acne inversa, especially in the presence of certain trigger factors.

This report describes a Danish family with autosomal dominant hypotrichosis, where affected members experienced gradual diffuse hair loss leading to near-total scalp alopecia by ages 14-21.

This article reviews the genetic basis, diagnostic approaches, and treatment options for nude severe combined immunodeficiency, but does not present any new research findings.

This study found that the absence of the vitamin D receptor disrupts hair follicle structure during the first catagen in mice, linked to increased expression of the hairless gene.

In this case report, a 42-year-old male diagnosed with Cronkhite-Canada syndrome presented symptoms like chronic diarrhea, significant weight loss, skin hyperpigmentation, alopecia, and nail dystrophy, with endoscopic findings revealing numerous gastrointestinal polyps.