research A rare cause of irrevocable childhood alopecia feigning alopecia universalis: Atrichia congenita with papular lesions
An 8-year-old girl has a rare genetic disorder causing complete, irreversible hair loss and skin bumps.
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180-210 / 1000+ results research A homozygous missense variant in type I keratin KRT25i> causes autosomal recessive woolly hair
A genetic variant in the KRT25 gene causes tightly curled hair.
research Parry-Romberg Syndrome: A Rare Case with Diagnostic Challenges and Orthodontic Implications
Early recognition and multidisciplinary management are crucial for improving outcomes in Parry-Romberg syndrome.
research Actualización de la tricodinia, un reto para los dermatólogos
Trichodynia is a painful scalp condition linked to hair loss and mental health issues, with limited treatment options.
research Follicular ichthyosis
The four patients have a unique type of ichthyosis affecting hair follicles.
research Itchy Hair – Trichoknesis: A Variant of Trichodynia or a New Entity?
The conclusion is that "trichoknesis" should be recognized as a separate condition from trichodynia, characterized by itching instead of pain.
research Congenital Triangular Alopecia
Congenital triangular alopecia is a harmless, non-spreading hair loss condition often seen in young children.
research Corkscrew Hairs in Trichoscopy of Trichotillomania
Corkscrew hairs can help diagnose trichotillomania.
research Trichothiodystrophy: Current Concepts
TTD patients don't have a higher skin cancer risk because their main issue is with transcription, not DNA repair.
research Rapp-Hodgkin syndrome: A review of the aspects of hair and hair color
Rapp-Hodgkin syndrome, AEC, and EEC are different expressions of the same genetic disorder caused by TP63 gene mutations.
research Paint brush hair: a case report
Shaving and avoiding brushing improved the patient's beard hair condition.
research Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome in a Saudi Child: A Case Report
An 8-year-old Saudi boy was diagnosed with a rare genetic disorder causing hair loss, skin issues, and light sensitivity.
research MULTIPLE DEFECTS OF THE HAIR SHAFT IN NETHERTON'S DISEASE.
Netherton's disease causes multiple hair defects.
research A unique presentation of trichofolliculoma in amniotic band syndrome
Trichofolliculoma was found in a person with amniotic band syndrome for the first time.
research A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2
A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.
research Autosomal recessive woolly hair/hypotrichosis with homozygous mutation in the <i>LIPHi> gene: a case report
A genetic mutation in the LIPH gene causes a rare hair disorder with sparse, curly hair.
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 [Congenital hereditary hypotrychosis. Generalized autosomal dominant hypotrichosis with pili torti (hypotrichosis congenita hereditaria Marie Unna)].
A hereditary condition causes hair loss and twisted hair in some family members.
research A Child with Nonscarring Alopecia
A 4-year-old girl was diagnosed with trichotillomania, a condition where she pulls out her hair, which may resolve on its own or require therapy.
research A case of unilateral congenital triangular alopecia
A 5-year-old boy was diagnosed with congenital triangular alopecia, a type of hair loss without skin changes, usually starting between ages 2-5, with no specific treatment.
research A case of temporal triangular alopecia
A 3-year-old boy was diagnosed with a rare, non-scarring hair loss condition called temporal triangular alopecia.
research A case of localized uncombable hair syndrome
A 4-year-old girl had a rare hair disorder affecting only part of her scalp.
research Temporal Triangular Alopecia—Clinical and Dermoscopic Features of a Rare Entity
Temporal triangular alopecia is a harmless, non-progressive hair loss condition.
research Ichthyosiform Erythroderma, a Multifaceted Syndromic Entity
A baby with KID syndrome died from infections and organ failure at 18 months old.
research Congenital Generalized Hypertrichosis Terminalis with Gingival Hyperplasia and a Coarse Face: a Case Report
A six-year-old boy with excessive hair growth and other symptoms may have a genetic link on chromosome 17q, requiring regular medical follow-ups.
research Mutations in the helix termination motif of mouse type I IRS keratin genes impair the assembly of keratin intermediate filament
Mutations in specific keratin genes cause improper hair structure in mice due to faulty keratin protein assembly.
research [Netherton's syndrome in two sisters].
Two sisters with Netherton's syndrome had skin and hair issues, needing special diet and ointments.
research Ichthyosis follicularis with alopecia and photophobia (IFAP): late diagnosis in 18‐year‐old man
An 18-year-old man was diagnosed with a rare genetic disorder causing hair loss, severe light sensitivity, and skin issues.
research Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome
IFAP syndrome is a rare genetic disorder causing skin, hair, and eye issues, with limited treatment options.
research Bamboo Hair Syndrome or Netherton Syndrome - A Case Report
Netherton Syndrome is a non-treatable genetic disorder in children causing skin, hair, and allergy issues.