research Porokeratotic eccrine ostial and dermal duct nevus: A noteworthy presentation
PEODDN is a rare skin disorder with limited treatment options, best treated with laser therapy.
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270-300 / 1000+ resultsresearch Lamellar ichthyosis, dwarfism, mental retardation, and hair shaft abnormalities
A new syndrome may link skin, growth, mental, and hair issues.
research A novel missense mutation (C622G) in the zinc‐finger domain of the human hairless gene associated with congenital atrichia with papular lesions
A new gene mutation causes a rare type of hair loss.
research Two siblings with uncombable hair syndrome: A new pathogenic variant
Two siblings have a rare hair condition caused by a new genetic variant.
research Koilonychia in a Patient with Alopecia Areata.
Koilonychia in alopecia areata can improve with oral corticosteroids.
research Atrichia with papular lesions resulting from a novel homozygous missense mutation in the hairless gene
A new genetic mutation in the hairless gene causes a rare hair loss disorder.
research リリース：Microsoft RSAT for Windows 7 SP1（20110412-1）
Early diagnosis of trachyonychia improves treatment and reduces psychological and cosmetic issues.
research Alopecia areata in a patient with WNT10A heterozygous ectodermal dysplasia
A girl with a rare genetic condition affecting hair and nails also developed a common type of hair loss, suggesting a possible genetic link.
research A polarizing light microscopy can be an easy and reliable diagnostic tool of congenital keratinizing disorders including Netherton syndrome
Polarizing light microscopy can easily and reliably diagnose congenital keratinizing disorders like Netherton syndrome.
research Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis
A rare gene variant causes hair and nail issues in a family.
research Congenital atrichia and hypotrichosis
The document emphasizes the importance of correctly identifying and classifying genetic hair disorders to help diagnose related health conditions.
research Atrichia and Papular Lesions: Report of a Case
A 4-year-old girl has a rare condition causing hairlessness and skin bumps, but normal teeth and sweating.
research Localized Acquired Alopecia over the Mental Area of Chin
A 12-year-old boy has a rare, harmless hair loss on his chin with no need for treatment.
research Onycholemmal Carcinoma
A rare nail bed cancer was successfully treated with no recurrence after 4 years.
research Pathogenesis of pili annulati
Pili annulati is caused by a protein metabolism disorder affecting hair structure.
research A Newborn With Hair Loss
The baby’s hair loss was due to a rare genetic condition, not treatable by usual methods.
research Clinical cases of Darier-White follicular dyskeratosis
Darier-White disease causes skin and nail issues, starts around age 20, worsens until 40-50, and has poor treatment options.
research Monilethrix, a rare inherited hair shaft disorder in siblings
Monilethrix is a genetic hair disorder causing fragile, beaded hair with no effective treatment.
research Diffuse congenital hypotrichosis simplex with associated hair shaft fragility
The document's conclusion cannot be provided because the document is not available or cannot be understood.
research Punctate Follicular Porokeratosis
Punctate follicular porokeratosis is a skin condition with specific features seen in hair follicles.
research Large Intragenic KRT1 Deletion Underlying Atypical Autosomal Dominant Keratinopathic Ichthyosis
A rare genetic deletion in the KRT1 gene causes unique skin symptoms in a family.
research Monilethrix: Beaded hair and hypotrichosis in a child
A 9-year-old girl has a rare hair disorder causing beaded, sparse hair.
research Vitamin D dependent rickets type 2: a case-based review of patient with alopecia and rickets
A rare genetic disease causes rickets and often hair loss in young children, which can improve with specific treatments.
research Kératose pilaire
Keratosis pilaris causes small skin bumps, mainly in women, and treatments offer only temporary relief.
research Onychogryphosis by an elastic wire
research Complete Pseudo-Anodontia in an Adult Woman with Pseudo-Hypoparathyroidism Type 1a: A New Additional Nonclassical Feature?
A woman with a rare hormone resistance condition also had missing teeth and hair loss, which might be new symptoms of her genetic disorder.
research Alopecia totalis in an infant
An infant with complete hair loss was diagnosed with a genetic disorder affecting hair growth.
research A novel mutation in the connexin 26 gene (GJB2) in a child with clinical and histological features of keratitis–ichthyosis–deafness (KID) syndrome
A new gene mutation linked to KID syndrome was found, expanding genetic knowledge.
research Dermatopathia pigmentosa reticularis: A rare reticulate pigmentary disorder
Dermatopathia pigmentosa reticularis causes skin discoloration, hair loss, and nail problems.
research Atrichia with papular lesions in Syrian siblings exposing global diagnostic challenges in genetic alopecia: A rare case report
Atrichia with papular lesions causes irreversible hair loss from infancy and is often misdiagnosed.