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.
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840-870 / 1000+ resultsresearch Folliculin interacts with p0071 (plakophilin-4) and deficiency is associated with disordered RhoA signalling, epithelial polarization and cytokinesis
Folliculin deficiency causes problems with cell division and positioning due to disrupted RhoA signaling and interaction with p0071.
research Pityriasis rubra pilaris: a rare inflammatory dermatosis
An 18-year-old woman was diagnosed with a rare skin condition called Pityriasis rubra pilaris.
research A Case Report of Werner’s Syndrome With a Novel Mutation From India
A new genetic mutation causing Werner's syndrome was found in an Indian man.
research Supplementary Material for: Case report - Hair shaft normalization and hair growth in SPINK5-syndromic epidermal differentiation disorder (Netherton syndrome) while on treatment with dupilumab: a novel therapeutic approach for Trichorrhexis invaginata
Dupilumab improved hair and skin in a woman with Netherton syndrome.
research Index of Suspicion
The girl's symptoms suggest a complex condition that's hard to diagnose despite normal test results.
research Supplementary Material for: Case report - Hair shaft normalization and hair growth in SPINK5-syndromic epidermal differentiation disorder (Netherton syndrome) while on treatment with dupilumab: a novel therapeutic approach for Trichorrhexis invaginata
Dupilumab improved hair and skin in a woman with Netherton syndrome.
research The gene for autosomal dominant hidrotic ectodermal dysplasia (Clouston syndrome) in a large Indian family maps to the 13q11-q12.1 pericentromeric region
The gene for Clouston syndrome in a large Indian family is located in the 13q11-q12.1 region.
research KID Syndrome: Report of a Case and Support for Its Reclassification as an Ectodermal Dysplasia
KID syndrome should be reclassified as an ectodermal dysplasia.
research Uncombable hair in a case of Zellweger syndrome – A new association
Uncombable hair syndrome is linked to Zellweger syndrome.
research Netherton Syndrome Associated with Growth Hormone Deficiency
Growth hormone therapy can improve growth in Netherton syndrome patients with growth hormone deficiency.
research Novel KRT83 and KRT86 mutations associated with monilethrix
New mutations in KRT83 and KRT86 are linked to the hair disorder monilethrix.
research Sustain Released Bupropion in the Treatment of Tricotillomania: Outpatient Follow Up Survey
Bupropion SR may help treat trichotillomania.
research Heterozygous KRT32 variant is responsible for autosomal dominant loose anagen hair syndrome
A KRT32 gene variant causes loose anagen hair syndrome.
research APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex
A gene called APCDD1, which controls hair growth, is found to be faulty in a type of hair loss called hereditary hypotrichosis simplex.
research Salt-losing tubulopathy and chronic dermatitis
Genetic testing for EGFR mutations is crucial in similar cases.
research Steroid 17β-hydroxysteroid dehydrogenase deficiency in man: An inherited form of male pseudohermaphroditism
Affected males are born with ambiguous genitalia, raised as females, but develop male traits at puberty due to enzyme deficiency.
research Hair-Thread Tourniquet Syndrome: A Comprehensive Review
Early detection and removal of hair can prevent damage in hair-thread tourniquet syndrome.
research Platelet GPIIb/IIIa (P1A1/2) polymorphism in SLE: clinical and laboratory association
An antibiotic called co-trimoxazole can effectively treat autoimmune diseases.
research Syndrome of Birt–Hogg–Dubé, a Histopathological Pitfall With Similarities to Tuberous Sclerosis
Birt–Hogg–Dubé Syndrome requires genetic testing for accurate diagnosis due to its similarities with tuberous sclerosis.
research PA11 A rare case of a severe papulopustular dermatosis secondary to a germline EGFR mutation
A rare genetic mutation in the EGFR gene caused severe skin issues and other health problems in a Slovakian girl, who is now 4 years old and receiving care.
research Moniletrix of the scalp from almost normal aspect to total alopecia: variable intrafamilial expressiveness
Monilethrix causes different levels of hair loss in family members.
research Trichotillomania – therapeutic possibilities
Cognitive-behavioral therapy with habit reversal training is the most effective treatment for trichotillomania.
research Trichotillomania Successfully Treated With Risperidone and Naltrexone: A Geriatric Case Report
Trichotillomania was successfully treated with risperidone and naltrexone.
research Você conhece esta síndrome? * Do you know this syndrome? *
Loose anagen hair syndrome causes easily pulled, thin hair in kids but is harmless and temporary.
research Omenn syndrome in a 10-month-old male with athymia and VACTERL association
A 10-month-old boy with a rare combination of genetic conditions has severe immune deficiency and treatment challenges.
research Hyperandrogenism in a set of triplets with modification of clinical course by hyperthyroidism
Hyperthyroidism can hide signs of high androgen levels in females.
research Trichoscopy: A Useful Tool in Diagnosing Temporal Triangular Alopecia
Trichoscopy effectively diagnoses temporal triangular alopecia in children.
research Rabson-Mendenhall syndrome: two case reports and a brief review of the literature
The document concludes that Rabson-Mendenhall syndrome requires novel treatments for insulin resistance and emphasizes the importance of dental care in affected patients.
research Localized Autosomal Recessive Hypotrichosis Due to a Frameshift Mutation in the Desmoglein 4 Gene Exhibits Extensive Phenotypic Variability within a Pakistani Family
A specific gene mutation causes varying hair loss severity in a Pakistani family.