research Familial congenital generalized hypertrichosis
A girl inherited excessive body hair from her mother and grandmother.
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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 Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex
Mutations in the LSS gene cause a rare type of hereditary hair loss.
research A Case of Tricho-rhino-phalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene
A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
research Monilethrix
A 12-year-old girl was diagnosed with monilethrix, a genetic condition causing fragile, beaded hair that breaks easily, with no effective treatment available.
research Hypotrichosis congenita (KRT71 mutation) in Hereford cattle in Uruguay
A KRT71 mutation in Hereford cattle in Uruguay causes thin, curly hair and scaly skin.
research Ovarian Hyperthecosis Presenting as Polycythemia
Ovarian hyperthecosis can cause polycythemia, and surgery can normalize symptoms.
research Disseminated Nonsegmental Vitiligo Associated With Halo Nevi and Premature Gray Hair
A rare combination of halo nevi, nonsegmental vitiligo, and early gray hair can occur together.
research Novel Hairless Mutations in Two Kindreds with Autosomal Recessive Papular Atrichia
New mutations in the hairless gene may cause hair loss and affect bone development.
research Twins with psychiatric features and a nonsense HRAS variant affecting transcript processing
A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.
research A Case of Sheehan Syndrome Presenting with Pancytopenia and Dilated Cardiomyopathy: A Rare Combination
A woman with Sheehan syndrome improved with hormone treatment.
research Congenital generalized hypertrichosis: the skin as a clue to complex malformation syndromes
Excessive body hair can signal complex health issues.
research Hypotrichosis and Hair Loss on the Occipital Scalp
A baby girl has a hair disorder called monilethrix, causing fragile hair that may improve over time.
research RISK FACTORS, PREVALENCE AND DIAGNOSIS OF HUTCHISON GILFORD SYNDROME WITH SPECIAL REFERENCE TO CASE REPORTS
Hutchinson-Gilford Progeria Syndrome is a rare genetic disorder caused by a specific gene mutation, characterized by aging symptoms and managed by monitoring heart health and using low-dose aspirin.
research Nevus Sebaceus With Novel HRAS Sequence Variant Mutation Misdiagnosed as Alopecia Areata
A 12-year-old girl was misdiagnosed with alopecia areata but actually had a nevus sebaceus with a genetic mutation.
research A Variable Monilethrix Phenotype Associated With a Novel Mutation, Glu402Lys, in the Helix Termination Motif of the Type II Hair Keratin hHb1
A new mutation, Glu402Lys, in hair keratin is linked to variable symptoms of monilethrix.
research 8162 A Unique Presentation of Ovarian Steroid Cell Tumor Causing Hyperandrogenism in a Postmenopausal Woman
Surgical removal of a rare ovarian tumor improved symptoms and hormone levels in a postmenopausal woman.
research A rare clinical image of hypertrichosis (Werewolf syndrome)
Hypertrichosis causes excessive hair growth and needs psychological support due to its impact on self-esteem.
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 Trichorrhexis nodosa. Clinical and investigative studies
Trichorrhexis nodosa is mainly caused by hair trauma, not a metabolic defect.
research Clouston syndrome: A complete genotype–Phenotype correlation after four decades and six generations
Clouston syndrome is inherited in an autosomal dominant pattern and caused by a specific gene mutation, with no current treatment available.
research Thehairless gene of the mouse: Relationship of phenotypic effects with expression profile and genotype
Mutations in the hairless gene in mice affect its expression and lead to a range of developmental issues in multiple tissues.
research 17-Hydroxyprogesterone Responses to Gonadotropin-Releasing Hormone Disclose Distinct Phenotypes of Functional Ovarian Hyperandrogenism and Polycystic Ovary Syndrome
The research found that polycystic ovary syndrome (PCOS) has two distinct types, with one having more severe hormone and insulin issues.
research Rare Coexistence of Monilethrix and Trichorrhexis Nodosa in a Pediatric Patient: A Case Report
A 6-year-old girl had both monilethrix and trichorrhexis nodosa, causing brittle hair, with minimal improvement from treatment.
research Atrichia with papular lesions in a Taiwanese patient without hairless (HR) gene mutation
A Taiwanese patient had hair loss and skin bumps without the usual gene mutation, suggesting other genetic factors might be involved.
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 New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene
A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.
research Morphological study in a mechanism of congenital pili torti formation: Björnstad syndrome
Björnstad syndrome causes twisted hair from birth.
research A Rare Case of Postmenopausal Hirsutism Associated With a Serous Cystadenofibroma of the Ovary
Benign ovarian tumors can cause excess male hormones and related conditions in postmenopausal women.
research A case of 21-hydroxylase deficiency in Turner′s syndrome and literature review
Routine genetic testing is crucial for early diagnosis and better management of Turner’s syndrome with 21-hydroxylase deficiency.