research Two siblings with a novel nonsense mutation, p.R50X, in the vitamin D receptor gene
A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.
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540-570 / 1000+ resultsresearch Prevalence of Body Dysmorphia in Polycystic Ovary Syndrome ( PCOS) Patients
Body dysmorphia is common in women with PCOS, affecting their quality of life.
research Commonly Misdiagnosed Rare Condition – Toe Tourniquet Syndrome – Literature Review
Toe Tourniquet Syndrome is often misdiagnosed.
research Hybrid Eccrine Gland and Hair Follicle Hamartoma
A rare skin growth in a baby was successfully removed without coming back.
research Trichothiodystrophy
research A KRT71 Loss-of-Function Variant Results in Inner Root Sheath Dysplasia and Recessive Congenital Hypotrichosis of Hereford Cattle
A specific genetic change in the KRT71 gene causes a hair loss condition in Hereford cattle.
research Unusual Presentation of Rapunzel Syndrome in an 8-Year-Old Girl
Rapunzel syndrome can show vague symptoms and needs long-term psychiatric care to prevent recurrence.
research Worldwide cohort study of 46, XY differences/disorders of sex development genetic diagnoses: geographic and ethnic differences in variants
About 50% of 46, XY DSD cases lack a genetic diagnosis, but advanced sequencing methods improve detection.
research New clinico‐genetic classification of trichothiodystrophy
A new classification for trichothiodystrophy helps identify genetic causes and potential treatments.
research Bloch-Sulzberger Syndrome: A Rare X-Linked Dominant Genetic Disorder in a Newborn
Early diagnosis of Bloch-Sulzberger Syndrome is crucial to prevent severe complications.
research Familial Frontal Fibrosing Alopecia
Familial frontal fibrosing alopecia is rare, mostly affects women, and often occurs between sisters or mother-daughter pairs.
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 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 CUTANEOUS MASTOCYTOSIS IN CHILDREN: AN INDIAN EXPERIENCE
Fox Fordyce disease can occur in prepubertal girls and may be underdiagnosed.
research A Homozygous Frameshift Mutation in theHOXC13Gene Underlies Pure Hair and Nail Ectodermal Dysplasia in a Syrian Family
A mutation in the HOXC13 gene causes hair and nail problems in a Syrian family.
research Homozygous Dominant Missense Mutation in Keratin 17 Leads to Alopecia in Addition to Severe Pachyonychia Congenita
A specific gene mutation causes severe skin and nail issues and hair loss.
research Ichthyosis Follicularis With Alopecia and Photophobia
Two boys had a rare skin condition needing to be differentiated from similar disorders, with unclear inheritance due to few cases.
research Ocular manifestations in a case of Kallmann syndrome – An interesting case report on isolated gonadotropin-releasing hormone deficiency
Kallmann syndrome can cause eye issues and other health problems, requiring various treatments.
research Alopecia totalis in an infant
An infant with complete hair loss was diagnosed with a genetic disorder affecting hair growth.
research Pseudoglucagonoma Syndrome Following Frey’s Surgery: A Case Report of a Rare Presentation
Improved nutrition quickly healed the patient's skin lesions.
research Hutchinson-Gilford progeria syndrome: Report of 2 cases and a novel LMNA mutation of HGPS in China
A new genetic mutation linked to Hutchinson-Gilford progeria syndrome was found in China.
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 Trichothiodystrophy: Review of sulfur-deficient brittle hair syndromes and association with the ectodermal dysplasias
research A case of encephalocraniocutaneous lipomatosis
The document reports a rare case of ECCL with a new association with optic disc colobomas.
research A Very Unusual Cause of Diarrhea in a 60-Year-Old Man
The man's diarrhea was caused by a rare disorder called Cronkhite-Canada syndrome, which improved with specific medications.
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 414 A new form of ectodermal dysplasia caused by mutations in TSPEAR
Mutations in the TSPEAR gene cause a new form of ectodermal dysplasia affecting hair and tooth development.
research Cronkhite-Canada syndrome associated withmyelodysplastic syndrome
A woman with both Cronkhite-Canada syndrome and myelodysplastic syndrome improved significantly with corticosteroid treatment.
research Ichthyosiform Erythroderma, a Multifaceted Syndromic Entity
A baby with KID syndrome died from infections and organ failure at 18 months old.
research Genetic correlation by pedigree analysis in patients diagnosed with PCOS as per Rotterdam’s criteria
PCOS is likely inherited in families, increasing risk for first-degree relatives.