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.
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research Woolly hair nevus
This study presents the first reported case of woolly hair nevus appearing during adolescence, with significant improvement observed 5 years later and structural changes in the hair documented.
research A rare case of woolly hair with unusual associations
This case report presents a patient with woolly hair and associated symptoms, including keratosis pilaris, nail dystrophy, increased interdental spaces, and recurrent bullous impetigo, observing a combination not previously reported.
research The medusa head: Dermoscopic diagnosis of woolly hair syndrome
A man with Woolly Hair Syndrome had very curly, fragile hair, and doctors used a special scalp examination to diagnose him without invasive tests.
research [Wooly hair syndrome. Clinical and microscopic study].
This study reported three related cases of woolly hair syndrome transmitted as a dominant autosomal trait, characterized by fine, frizzy hair and general hair thinning.
research A Homozygous Missense Variant in K25 Underlying Overlapping Phenotype with Woolly Hair and Dental Anomalies
This review discusses the genetic origins of autosomal recessive woolly hair with hypotrichosis and reports no clinical results; it highlights the link to homozygous variants in the K25 keratin gene.
research Loose Anagen Hair Associated with Wooly Hair Caused by a Heterozygous, Intronic KRT71 Variant
This study explored a mother and daughter with loose anagen hair syndrome linked to wooly hair, identifying an intronic variant in the KRT71 gene that affects hair keratin splicing, thus broadening the spectrum of KRT71-related disorders.
research WOOLY HAIR PALMOPLANTAR KERATODERMA : A CASE REPORT
This case report describes a 56-year-old woman with wooly hair and skin lesions, who experienced reduced plaque size and thickness after using 6% salicylic acid topically for three months.
research Clinicopathological insights into the phenotypic variation of autosomal recessive hypotrichosis/wooly hair by c.736T>A LIPH mutation
This study suggested that differences in hair follicle development, indicated by the frequency of underdeveloped hairs, significantly contribute to the variation in hair loss severity among Japanese individuals with the LIPH c.736T>A mutation.
research Disruption of P2RY5, an orphan G protein–coupled receptor, underlies autosomal recessive woolly hair
This study found mutations in the P2RY5 gene that are linked to autosomal recessive woolly hair in Pakistani families, implicating it in hair texture determination.
research Autosomal-Dominant Woolly Hair Resulting from Disruption of Keratin 74 (KRT74), a Potential Determinant of Human Hair Texture
A mutation in the KRT74 gene causes tightly curled hair.
research Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles
A mutation in the KRT25 gene causes a rare hair disorder with thin, woolly hair.
research A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair
This study identified a new gene involved in woolly hair by linking a homozygous variant in KRT25 to autosomal recessive woolly hair in two Pakistani families.
research The twisting tale of woolly hair: a trait with many causes
This review discusses the genetic basis of woolly hair syndrome and its potential link to heart disorders, highlighting recent discoveries of new molecular pathways and suggesting possible future treatment options.
research A missense mutation in the P2RY5 gene leading to autosomal recessive woolly hair in a Syrian patient
This article discusses various dermatological studies cited by previous authors and reports no new clinical results.
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 Keratin 71 Mutations: From Water Dogs to Woolly Hair
This study identified a missense mutation in the keratin 71 gene as the cause of autosomal dominant woolly hair/hypotrichosis in a Japanese family, marking the first human mutation in KRT71 linked to a hair disorder.
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 The Oxidative Degradation of Keratin (Wool and Bovine Hair)
This study investigated multiple alkaline oxidative dehairing systems and found a consistent reaction mechanism for disulfide cleavage across systems, enhancing hair solubilization by enabling structural swelling and water uptake.
research Hair Follicle Miniaturization in a Woolly Hair Nevus
This case study reports on an 11-year-old boy with woolly hair nevus, featuring twisted hair shafts and an abnormal hair cuticle, alongside epidermal nevi on his face and back.
research Topical minoxidil and tretinoin combined with an oral vitamin D analog as a treatment for woolly hair
Using minoxidil and tretinoin on the skin, along with oral vitamin D, improved hair thickness and density in two girls with woolly hair.
research Woolly hair with alopecia areata in a Caucasian girl
This case report describes a 5-year-old girl with trichorrhexis nodosa and highlights the presence of isolated curly hairs on her scalp despite hair loss over four months.
research Autosomal recessive hypotrichosis simplex with woolly hair: a report of a new family
This case report describes a new family with autosomal recessive hypotrichosis simplex with woolly hair, suggesting the disorder may be underreported due to misdiagnosis.
research Autosomal recessive woolly hair syndrome: a series of eight patients in an Indian population
This case series describes eight instances of autosomal recessive woolly hair in an Indian population over the past 12 years, detailing their clinical presentation, hair traits, and treatment response.
research Woolly hair generalizado: caso clínico e revisão da literatura
This study reviewed the medical literature on generalized woolly hair and reported that while there are no effective treatments, some narratives suggest that topical Minoxidil may help with hypotrichosis associated with the condition.
research Case report: Exploring autosomal recessive woolly hair: genetic and scanning electron microscopic perspectives on a Japanese patient
In this study, a 3-year-old Japanese child with autosomal recessive woolly hair was found to have a distinctive irregular and rough cuticle on the hair shaft, along with a homozygous pathogenic LIPH variant, suggesting a critical role for genetic analysis in understanding rare hair conditions.
research Development of Woolly Hair and Hairlessness in a CRISPR−Engineered Mutant Mouse Model with KRT71 Mutations
In this study, researchers created a mouse model using CRISPR/Cas9 technology to investigate hypotrichosis simplex and woolly hair, finding that Krt71-knockout mice exhibited curly hair and developed complete hair shedding without immune deficiencies, mimicking conditions seen in humans and potentially aiding future hair disorder research.
research Botanical extracts in combination improve autosomal recessive woolly hair/hypotrichosis caused by LIPH mutations
In this case study, a 6-year-old child with autosomal recessive woolly hair showed significant hair growth and sustained improvement with a 4-year combination treatment of botanical extracts, though the precise mechanisms need further research.
research Coexistence of Woolly Hair and Monilethrix: A Cases Study
This report describes a case of two sisters with kinky, tangled hair diagnosed using trichoscopic and microscopic methods; they were treated with topical minoxidil.
research Unexpectedly high carrier rates and genotype/phenotype correlation; LIPH mutations in Japanese autosomal recessive woolly hair/hypotrichosis
This study identified that in Japanese patients with autosomal recessive woolly hair/hypotrichosis, the c.736T > A LIPH mutation is associated with a mild phenotype, while the c.742C > A mutation may lead to severe baldness.