Results 41 to 50 of about 596 (152)
Вопросы современной педиатрии, 2023 Background. Hypotrichosis is a heritable form of alopecia that causes almost complete scalp hair loss in childhood. The diagnosis is typically established according to medical history and clinical picture.
Nikolay N. Murashkin +7 more
doaj +1 more source
Multimorbidity in Pediatric Dermatology: Clinical Case
Вопросы современной педиатрии, 2020 Background. Nowadays, dermatoses with mixed clinical picture and resistant to classical management become more common. The presence of various genetic disorders typical for most chronic dermatoses may indicate possible combination of several nosologies ...
Nikolay N. Murashkin +10 more
doaj +1 more source
Mutations in the Desmoglein 4 Gene Are Associated with Monilethrix-like Congenital Hypotrichosis [PDF]
, 2006 The gene encoding human desmoglein 4 (DSG4) was recently cloned, and a mutation in this gene has been reported in several consanguineous Pakistani families affected with localized autosomal recessive hypotrichosis (LAH). In addition, various mutations in
Kariya, Naoyuki +4 more
core +1 more source
An Autosomal Recessive Mutation of DSG4 Causes Monilethrix through the ER Stress Response [PDF]
, 2015 Monilethrix is a hair shaft anomaly characterized by beaded hair with periodic changes in hair thickness. Mutations in the desmoglein 4 (DSG4) gene reportedly underlie the autosomal recessive form of the disease.
Yokoyama, Yoko +8 more
core +1 more source
Monilethrix with variable expressivity
International Journal of Trichology, 2013 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 ...
Bindurani, S, Rajiv, S
openaire +3 more sources
Clinical Case Reports, Volume 14, Issue 6, June 2026.Clinical timeline of the reported EDSS1 case, illustrating disease onset, diagnostic milestones, treatment initiation, treatment modifications, and longitudinal response to combined topical minoxidil and tretinoin therapy from infancy through the last follow‐up.
Bana O. Aburajab +3 more
wiley +1 more source
Linkage of Monilethrix to the Trichocyte and Epithelial Keratin Gene Cluster on 12q11-q13 [PDF]
, 1996 Monilethrix is characterized by beaded or moniliform hair, which results from the periodic thinning of the hair shaft. The beaded hair thus produced is subject to excess weathering and premature fracturing at the internodes.
Spurr, Nigel K. +6 more
core +1 more source
Dermatologic Therapy, Volume 2026, Issue 1, 2026.Dermoscopy is a noninvasive tool that enables the visualization of skin lesions with magnification, allowing for more accurate diagnosis. Over the years, it has evolved from a utility in differentiation between malignant and benign neoplasms to administration in the vascular, inflammatory, and infectious dermatoses.
Vincenzo Piccolo +8 more
wiley +1 more source