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.
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450-480 / 1000+ resultsresearch Post-finasteride syndrome - a true clinical entity?
research Hyperadrenocorticism in Ferrets
Hyperadrenocorticism in ferrets is linked to neutering and indoor housing, and is best treated with surgery and a deslorelin implant.
research Atrichia With Papular Lesions
The condition is likely inherited in an autosomal-dominant pattern.
research Choroidal Melanoma and Lid Fibrofoliculomas in Birt-Hogg-Dubé Syndrome
A patient with Birt-Hogg-Dubé Syndrome also had choroidal melanoma, suggesting the need for careful eyelid exams in such patients.
research Association of follicle-stimulating hormone receptor gene ser680 asn (rs6166) polymorphism with polycystic ovarian syndrome
A certain genetic variation is linked to a higher risk of polycystic ovarian syndrome.
research A Rare association of Mauriac syndrome and Van-Wyk Grumbach syndrome found in a young Saudi girl with poorly controlled type 1 Diabetes and Hypothyroidism: A Case Report and Brief literature review
A young Saudi girl with uncontrolled type 1 diabetes and hypothyroidism had two rare conditions, Mauriac syndrome and Van Wyk–Grumbach syndrome.
research Genomic and Transcriptomic Characterization of Atypical Recurrent Flank Alopecia in the Cesky Fousek
The study found that the hair loss condition in Cesky Fousek dogs is influenced by multiple genes affecting skin and muscle structure, fat metabolism, and immunity.
research Monilethrix: Beaded hair and hypotrichosis in a child
A 9-year-old girl has a rare hair disorder causing beaded, sparse hair.
research [Two cases of the rare Cronkhite-Canada syndrome].
Two patients with Cronkhite-Canada syndrome achieved remission after treatment.
research Position effect on FGF13 associated with X-linked congenital generalized hypertrichosis
FGF13 gene changes cause excessive hair growth in a rare condition.
research Congenital generalized hypertrichosis: the skin as a clue to complex malformation syndromes
Excessive body hair can signal complex health issues.
research Androgenetic Alopecia in a Patient with Klinefelter Syndrome: Case Report and Literature Review
Finasteride may effectively treat hair loss in Klinefelter Syndrome patients.
research Clinical Characteristics of Frontal Fibrosing Alopecia in Brazil: A Series of 59 Patients
Frontal fibrosing alopecia in Brazil mostly affects postmenopausal women, often linked with hypothyroidism and eyebrow hair loss.
research Treatment outcomes and Follow-Up results of a sample of females with Frontal fibrosing Alopecia
Frontal fibrosing alopecia is a complex condition with no definitive treatment.
research Trichoscopy of Frontal Fibrosing Alopecia in Caucasians: A Review
Trichoscopy helps diagnose frontal fibrosing alopecia in Caucasians, but more research is needed.
research Post-finasteride syndrome: survey of dermatologists from the Spanish Hair and Nail Disorders Group
Most dermatologists think post-finasteride syndrome is rare, possibly psychiatric, and needs more research.
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 A rare pediatric case of loose anagen hair syndrome
research Trichothiodystrophy and fragile hair: the distinction between diagnostic signs and diagnostic labels in childhood hair disease
research Clouston’s syndrome: a rare case report
Clouston's syndrome is a rare disorder affecting nails, hair, teeth, and skin, caused by a gene mutation, and currently has no treatment, only supportive care.
research Novel Mutation in Sjögren-Larsson Syndrome Is Associated With Divergent Neurologic Phenotypes
The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
research Frontal Fibrosing Alopecia in Men: A Review of the Literature
Frontal fibrosing alopecia in men is often misdiagnosed and needs better diagnostic criteria and treatment strategies.
research A position effect on TRPS1 is associated with Ambras syndrome in humans and the Koala phenotype in mice
A position effect on the TRPS1 gene causes excessive hair growth in humans and mice.
research Double-Lined Frontoparietal Scleroderma en coup de sabre
The condition might be caused by genetic changes after birth.
research Frontal fibrosing alopecia: Histopathological and immunohistochemical study of the inflammatory infiltrate and the sebaceous gland receptors
Frontal fibrosing alopecia may be caused by an autoimmune reaction and hormonal imbalance.
research Adrenoleukodystrophy: A Rare Case Report
Early diagnosis and genetic counseling are crucial for managing adrenoleukodystrophy.
research Autosomal recessive ichthyosis with hypotrichosis syndrome: further delineation of the phenotype
A new mutation in the ST14 gene was found in a patient with ARIH syndrome, showing milder symptoms and no tooth issues.
research Salt-losing tubulopathy and chronic dermatitis
Genetic testing for EGFR mutations is crucial in similar cases.
research Post-menopausal frontal fibrosing alopecia
The document concludes that post-menopausal frontal fibrosing alopecia is a poorly understood condition that does not respond well to common treatments.