25 citations
,
October 1996 in “Dermatologic Clinics” This article discusses loose anagen syndrome, highlighting its characteristics, diagnostic methods, and spontaneous improvement over time, but provides no new clinical results.
21 citations
,
March 2018 in “American Journal Of Pathology” In this study, it was observed that NIPAL4 mutations linked to autosomal recessive congenital ichthyosis lead to abnormal skin barrier function due to cytotoxic effects disrupting lipid structure and organization, which topical treatments only partially ameliorated.
21 citations
,
September 1997 in “British Journal of Dermatology” This study found that monilethrix in three unrelated European families is linked to the type II keratin gene cluster on chromosome 12q13, with no evidence of defects in type I keratins.
20 citations
,
July 2013 in “European Journal of Oral Sciences” This study found a novel PAX9 gene mutation that may cause tooth agenesis and trichodysplasia in a studied family.
19 citations
,
October 1996 in “International Journal of Dermatology” This study concluded that pseudopelade is an autosomal dominant condition, distinct from other forms of alopecia, characterized by atrophic hair follicle loss and notable familial association.
19 citations
,
April 1995 in “Clinical Genetics” This report describes two siblings with a new familial association of loose anagen syndrome and ocular coloboma, despite unaffected parents and no family history.
18 citations
,
January 2020 in “Acta dermato-venereologica” This overview discusses advancements in the understanding of molecular genetics in heritable keratinization disorders, focusing on recent cases of inherited ichthyosis, and reports no new clinical results.
18 citations
,
February 2006 in “Genomics” A new genetic mutation in mice causes permanent hair loss and skin wrinkling.
16 citations
,
March 2005 in “Journal of The American Academy of Dermatology” This report describes a case of Birt-Hogg-Dube syndrome with manifestations including multiple fibrofolliculomas, acrochordons, and renal oncocytoma.
13 citations
,
July 2016 in “Pediatric Dermatology” This study found that loose anagen syndrome was more common in females and observed across all hair colors and skin types.
13 citations
,
July 2004 in “Pediatric dermatology” This case study describes a 9-year-old boy with monilethrix and associated abnormalities, suggesting a new, severe autosomal recessive variant termed "monilethrix syndrome.
13 citations
,
April 1994 in “Baillière's clinical endocrinology and metabolism” This review discusses inherited forms of vitamin D-dependent rickets and explains their genetic and metabolic causes but reports no new clinical findings.
12 citations
,
January 2013 in “Indian Journal of Dermatology” This case report on a 13-year-old boy with monilethrix observed slight improvement after a two-month trial of oral N-acetyl cysteine, but overall hair density did not improve further.
12 citations
,
March 2011 in “Pediatric dermatology” This report describes a new case of Marie-Unna hereditary hypotrichosis in an 18-year-old girl, marking the first occurrence in a previously unaffected family.
11 citations
,
January 2020 in “BMC pediatrics” This case report identified two new SLC39A4 mutations in twin patients with acrodermatitis enteropathica, suggesting that different mutations in this gene may lead to varying clinical manifestations of the disorder.
11 citations
,
January 2018 in “Jaypee's international journal of clinical pediatric dentistry” This report describes the clinical presentation of Papillon-Lefèvre syndrome in two brothers and reviews the related literature, without providing new clinical outcomes.
11 citations
,
January 2013 in “International Journal of Trichology” This report discusses a case of short anagen syndrome in a 3-year-old Hispanic girl and emphasizes its differentiation from loose anagen syndrome, without presenting new empirical findings.
11 citations
,
March 2004 in “Journal of Comparative Pathology” Norfolk Terriers have a genetic skin defect causing scaling and blisters due to a keratin issue.
10 citations
,
September 2019 in “Experimental Eye Research” This review discusses the role of RDH12 in vision, its structural and functional aspects, and related disease mechanisms, but reports no new clinical results; it aims to support therapy development for inherited retinal dystrophies.
10 citations
,
January 2003 in “Dermatology” This study describes a Japanese family with monilethrix and found no clear genotype/phenotype correlation in cases with the E413K mutation in hHb6.
10 citations
,
July 2001 in “PubMed” This case report describes two patients with a likely new type of pachyonychia, characterized by nail thickening and severe generalized hypotrichosis, possibly linked to a mutation in a hard keratin.
9 citations
,
June 2017 in “American journal of ophthalmology. Case reports” This case report identifies a novel CDH3 gene mutation associated with hypotrichosis with juvenile macular dystrophy in a 13-year-old Turkish girl, highlighting implications for future genetic analysis and counseling.
8 citations
,
December 2020 in “Scientific reports” This study examined the genetic basis for the curly hair trait in Mangalitza pigs, finding two specific genetic variants that contribute to this distinctive phenotype through autosomal dominant inheritance.
8 citations
,
January 2014 in “Indian Journal of Paediatric Dermatology” This case report describes a 4-year-old boy with congenital alopecia characterized by complete irreversible hair loss and papular lesions associated with keratin-filled cysts.
8 citations
,
July 1986 in “International Journal of Dermatology” This article discusses eruptive vellus hair cysts, detailing their appearance, distribution, histology, and potential spontaneous resolution, but reports no new clinical findings on treatment.
7 citations
,
May 2021 in “Animal Genetics” This study found that the Siberian sunshine tabby coat modification is associated with a specific CORIN gene variant, suggesting a genetic basis for this golden phenotype in cats.
7 citations
,
March 2015 in “British Journal of Dermatology” Applying minoxidil can help improve hair growth in people with hair loss caused by LIPH gene mutations.
7 citations
,
January 2012 in “International Journal of Trichology” A man with Woolly Hair Syndrome had very curly, fragile hair, and doctors used a special scalp examination to diagnose him without invasive tests.
6 citations
,
August 2022 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” This report identified three novel genetic mutations associated with congenital ichthyosis in Italian newborns and emphasized the importance of next-generation sequencing for personalized patient management.
6 citations
,
March 2017 in “Journal of the European Academy of Dermatology and Venereology” This article reviews genetic mutations linked to monilethrix, a hereditary hair disorder, and reports no new clinical findings on the condition's variability in symptoms and severity.