research Sparse Brittle Hair and Bilateral Temporal Alopecia in a Child
A 2-year-old boy has a rare hair disorder causing brittle hair and hair loss, which may improve with age.
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960-990 / 1000+ results research Autosomal recessive woolly hair syndrome: a series of eight patients in an Indian population
Autosomal recessive woolly hair is rare and involves tightly coiled hair without other health issues.
research The HAIR-AN syndrome : a case report
Treatment improved symptoms in a woman with HAIR-AN syndrome.
research SAT-213 Late Diagnosis of Complete Androgen Insensitivity
A 31-year-old woman was diagnosed with Complete Androgen Insensitivity Syndrome much later than usual, leading to a call for earlier detection and treatment guidelines.
research Hair Shaft Fracture in a Young Athlete: A Rare Case Report of Acquired Trichorrhexis Nodosa
A young athlete's fragile hair condition improved by cutting hair and using gentle shampoo.
research Circle hairs involving the extremities in a young girl
Circle hairs are harmless, spiral-shaped body hairs that don't need medical treatment.
research KERATOSIS FOLLICULARIS WITH UNUSUAL INVOLVEMENT OF THE SCALP
A rare case of severe scalp hair loss and nail issues in keratosis follicularis was observed.
research Pathogenesis in Trichorrhexis Invaginata (Bamboo Hair)
research (673) Seminoma in SRY-Negative 46, XX Testicular Disorder of Sex Development Presenting as Acute Abdomen: An Extremely Rare Case Report
Rare seminoma found in a 33-year-old woman with atypical genitalia and no Y chromosome.
research Follicular red dots: a normal trichoscopy feature in patients with pigmentary disorders?
Follicular red dots may be a normal feature seen in people with less skin pigmentation, not necessarily indicating a scalp disorder.
research Novel and recurrent mutations in the AIRE gene of autoimmune polyendocrinopathy syndrome type 1 (APS1) patients
Arab APS1 patients have unique and recurrent AIRE gene mutations.
research A Monoallelic Two-Hit Mechanism in PLCD1 Explains the Genetic Pathogenesis of Hereditary Trichilemmal Cyst Formation
A specific gene change plus an additional mutation in the same gene cause hereditary trichilemmal cysts.
research The importance of basonuclin 2 in adult mice and its relation to basonuclin 1
Basonuclin 2 is vital for the development of facial bones, hair follicles, and male germ cells in adult mice, and its absence can lead to dwarfism and abnormal follicles.
research NonClassic Congenital Adrenal Hyperplasia
NonClassic Congenital Adrenal Hyperplasia is a less severe form of a genetic disorder affecting adrenal gland function.
research Segregation of Incomplete Achromatopsia and Alopecia Due to PDE6H and LPAR6 Variants in a Consanguineous Family from Pakistan
Genetic variants in PDE6H and LPAR6 cause vision impairment and hair loss in two Pakistani brothers.
research Trichoscopy in genetic hair shaft abnormalities
Trichoscopy is a quick and easy way to diagnose most genetic hair problems without invasive methods.
research Two cases of aplasia cutis congenita with hair collar signs and macrophage hyperplasia
Two cases showed skin abnormalities without bone or neural defects.
research Gonadal Dysgenesis: Associations between Clinical Features and Sex of Rearing.
Gonadal biopsy is the best method to diagnose gonadal dysgenesis.
research Coexistence of Monilethrix and Androgenetic Alopecia: A Case Report and Review of the Literature
Diagnosing and treating monilethrix is challenging when it occurs with other hair disorders.
research Madarosis: A dermatological marker
research The Case | Bilateral kidney tumors and lung cysts
A man with kidney tumors and lung cysts was diagnosed with Birt–Hogg–Dubé syndrome and treated successfully, with genetic testing confirming the diagnosis.
research Male pseudohermaphroditism due to 17β-hydroxysteroid dehydrogenase deficiency: Studies on the natural history of the defect and effect of androgens on gender role
Individuals with this condition often develop male traits and identities at puberty despite being raised as females.
research Kennedy's disease and partial androgen insensitivity syndrome. Report of 4 cases and literature review
The conclusion is that adult males with muscle weakness and hormonal imbalances should be tested for Kennedy's disease.
research A case of acquired trichorrhexis nodosa after applying new hair spray
New hair spray caused a hair shaft disorder.
research Dunnigan-Type Familial Partial Lipodystrophy: Understanding and Treating the Syndrome
The document concludes that managing Dunnigan-Type Familial Partial Lipodystrophy involves treating associated health issues and using medications like metformin and leptin replacement.
research Autoimmune polyendocrine syndrome type 1 a case report from Bangladesh
A rare endocrine disorder, APS 1, was diagnosed in a 26-year-old man in Bangladesh.
research Plica Neuropathica in 2 Hispanic Patients
Two Hispanic women developed Plica neuropathica, a condition causing tangled hair, possibly due to hair damage and various risk factors.
research Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements
Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.
research A new compound heterozygous frameshift mutation in the type II 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) gene causes salt-wasting 3 beta-HSD deficiency congenital adrenal hyperplasia.
A genetic mutation in a specific gene causes a salt-wasting condition in a Pakistani girl and her family.
research PC038: A rare case of strawberry gingivitis associated with Granulomatosis with polyangiitis - GPA (Wegener granulomatosis)
A patient with "strawberry gingivitis" improved after correct treatment for Granulomatosis with polyangiitis, highlighting the need for early diagnosis.