research Congenital atrichia and hypotrichosis
The document emphasizes the importance of correctly identifying and classifying genetic hair disorders to help diagnose related health conditions.
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research Lectinhistochemistry of Dorsal Skin of Wistar-derived Hypotrichotic WBN/Ila-Ht Rats.
This study found no significant differences in lectinhistochemical characteristics of the dorsal skin epidermis between hypotrichotic WBN/Ila-Ht rats and Wistar rats, except for varying lectin binding intensity.
research Hypotrichosis congenita (KRT71 mutation) in Hereford cattle in Uruguay
This study reports that hypotrichosis congenita in Hereford cattle is associated with a KRT71 mutation, leading to color dilution follicular dysplasia.
research Autosomal Ichthyosis with Hypotrichosis Syndrome Displays Low Matriptase Proteolytic Activity and Is Phenocopied in ST14 Hypomorphic Mice
This study indicates that reduced activity of the matriptase-prostasin proteolytic cascade is likely the cause of human autosomal recessive ichthyosis with hypotrichosis, as demonstrated using a novel mouse model.
research Ichthyosis, Follicular Atrophoderma, and Hypotrichosis Caused by Mutations in ST14 Is Associated with Impaired Profilaggrin Processing
This study identified genetic mutations linked to congenital ichthyosis in families from the UAE and Turkey, revealing a connection between keratinization disorders and impaired filaggrin processing.
research A Missense Mutation within the Helix Initiation Motif of the Keratin K71 Gene Underlies Autosomal Dominant Woolly Hair/Hypotrichosis
A specific gene mutation causes woolly hair and hair loss.
research Autosomal recessive ichthyosis with hypotrichosis syndrome: further delineation of the phenotype
This report identifies a novel mutation in the ST14 gene in a female with autosomal recessive ichthyosis with hypotrichosis, highlighting similar features to previously reported cases.
research Phenotypic Diversity and Mutation Spectrum in Hypotrichosis with Juvenile Macular Dystrophy
In this study, mutations in the CDH3 gene were identified as the cause of hypotrichosis with juvenile macular dystrophy, and the researchers observed substantial phenotypic variability among affected individuals.
research THE EXPRESSION AND INTERACTION OF HEREDITARY FACTORS PRODUCING HYPOTRICHOSIS IN THE MOUSE: HISTOLOGY AND EXPERIMENTAL RESULTS
This study observed that the hair loss in homozygous rhino mice is associated with widening of the hair canal due to hyperkeratosis, leading to insufficient support for hair anchoring.
research A Missense Mutation within the Helix Termination Motif of KRT25 Causes Autosomal Dominant Woolly Hair/Hypotrichosis
A mutation in the KRT25 gene causes woolly hair and hair loss.
research A Missense Mutation in the Cadherin Interaction Site of The Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis
A specific gene mutation causes sparse, brittle hair in a family.
research Molecular basis of hypotrichosis with juvenile macular dystrophy in two siblings
This study identified a novel CDH3 mutation associated with sparse hair and pigmentary macular changes in two siblings with hypotrichosis but no visual symptoms.
research Effects of Hypertrichotic Agents on Follicular and Nonfollicular Cells in vitro
This study observed that minoxidil specifically increased DNA synthesis in hair follicle cells, suggesting its distinct mechanism of action in promoting hair growth compared to cyclosporin, which showed no direct proliferative effect on these cells.
research New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report
This study presents the first reported Spanish case of Hypotrichosis with Juvenile Macular Dystrophy, identifying a new CDH3 mutation and highlighting the importance of clinical and genetic evaluation for accurate diagnosis.
research Management of hypotrichosis of the eyelashes: Focus on bimatoprost
This review discusses the cutaneous application of bimatoprost ophthalmic solution 0.03% for enhancing upper eyelash growth and suggests it is both safe and effective; no new clinical results are reported.
research Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis
In this study, researchers identified a novel KRT74 gene mutation associated with autosomal recessive pure hair and nail ectodermal dysplasia in a Pakistani family, expanding the known genetic causes of the disorder.
research Hypotrichosis and nail dysplasia: A novel hidrotic ectodermal dysplasia
This report describes a rare case of hair and nail ectodermal dysplasia in a 3-year-old girl, where treatment with topical minoxidil resulted in minimal improvement after 12 months.
research Histopathology of Hypotrichosis with Juvenile Macular Dystrophy
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.
research Familial hypotrichosis of the scalp. Autosomal dominant inheritance in four generations.
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.
research Four hypotrichosis families with mutations in the gene LSS presenting with and without neurodevelopmental phenotypes
This study identified novel LSS mutations implicated in hypotrichosis simplex with or without neurodevelopmental abnormalities, highlighting the need for careful evaluation of synonymous mutations' potential pathogenic effects.
research Highly Prevalent LIPH Founder Mutations Causing Autosomal Recessive Woolly Hair/Hypotrichosis in Japan and the Genotype/Phenotype Correlations
This study identified two prevalent and one newly proposed founder LIPH mutations in Japanese patients with autosomal recessive woolly hair/hypotrichosis and associated these mutations with different severities of hair loss.
research Homozygous Deletion in CDH3 and Hypotrichosis With Juvenile Macular Dystrophy
This description of dystrophy hypotrichosis associated with juvenile macular dystrophy provides an overview of this rare disorder characterized by short hair from birth and progressive loss of central vision but reports no new findings.
research A novel nonsense CDH3 mutation in hypotrichosis with juvenile macular dystrophy
This case report identifies a novel nonsense mutation in the CDH3 gene associated with hypotrichosis and juvenile macular dystrophy.
research Identification of factors contributing to phenotypic divergence via quantitative image analyses of autosomal recessive woolly hair/hypotrichosis with homozygous c.736T>ALIPHmutation
This study observed phenotypic diversity in hair loss among Japanese individuals homozygous for the LIPH c.736T>A mutation and suggests that differences in hair thickness may contribute to varying severities.
research Prevalent founder mutation c.736T>A of LIPH in autosomal recessive woolly hair of Japanese leads to variable severity of hypotrichosis in adulthood
This study observed that some patients with homozygous c.736T>A mutation in LIPH may have mild hypotrichosis with long hairs in adulthood.
research Hair Restoration Surgery in Patients with Hypotrichosis of the Pubis
In this study, hair restoration surgery using mini-micrograft techniques successfully improved aesthetic outcomes and patient satisfaction in women with hypotrichosis of the pubis, particularly when preoperative evaluation matched pubic hair design to individual patient preferences.
research A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome
This study found a previously unreported ST14 gene mutation in a patient with ichthyosis-hypotrichosis syndrome, highlighting novel skin and hair characteristics and emphasizing the critical role of the Asp482 amino acid in matriptase activation.
research The β9 Loop Domain of PA-PLA1α Has a Crucial Role in Autosomal Recessive Woolly Hair/Hypotrichosis
A specific mutation in PA-PLA1α causes abnormal hair growth.
research Deficiency of the human cysteine protease inhibitor cystatin M/E causes hypotrichosis and dry skin
This study identified a genetic variant in the CTS6 gene associated with a hypotrichosis syndrome, emphasizing the significant role of cystatin M/E in hair and skin health.
research Isolated autosomal recessive woolly hair/hypotrichosis: genetics, pathogenesis and therapies
This study suggests that topical minoxidil may be a promising treatment for isolated autosomal recessive woolly hair due to LIPH mutations, although effective treatments are not yet established.