research Nevoid basal carcinoma syndrome (Gorlin syndrome) and pronounced androgenic alopecia in a woman with a novel mutation p.Leu1159fsx32 in the PTCH gene
A woman with a new PTCH gene mutation has both Gorlin syndrome and severe hair loss.
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510-540 / 1000+ results research Hypotrichosis in a child with olmsted syndrome
A child with Olmsted syndrome showed mild improvement in hair and skin issues with treatment.
research Occurrence of Klinefelter Syndrome Mosaic 45,X/46,XY/47,XXY/48,XXYY/48,XXXY and Primary Hyperparathyroidism
A man with both Klinefelter syndrome and primary hyperparathyroidism showed a rare combination of symptoms and genetic patterns.
research Cronkhite–Canada syndrome: from clinical features to treatment
There is no standard treatment for the rare Cronkhite–Canada syndrome, which can be fatal and lead to cancer.
research Diagnostic imaging in congenital adrenal hyperplasia – how does it help?
Imaging helps detect adrenal gland issues and monitor treatment in congenital adrenal hyperplasia, and can identify tumors affecting fertility.
research Ultra‐structural hair alterations in F riedreich's ataxia: A scanning electron microscopic investigation
Friedreich's ataxia causes thin, weak hair with surface damage and cavities.
research An Australian family with macular dystrophy linked to autosomal recessive alopecia universalis
An Australian with rare hair loss and eye conditions had a gene linked to both, not seen together before.
research SAT320 Cyclic Cushing Syndrome Caused By An ACTH-Producing Pheochromocytoma
A woman's cyclic Cushing syndrome was caused by a tumor in her adrenal gland that produced ACTH.
research Acrodermatitis Enteropathica: A Case Report Involving a Delayed Diagnosis
Early diagnosis and lifelong zinc supplementation are crucial for treating acrodermatitis enteropathica effectively.
research Letter from Brisbane [Letters to editor]
A Japanese patient with a rare genetic disorder had a less severe case than others, suggesting other factors may affect symptoms.
research Cronkhite-Canada Syndrome: A Case Report and Literature Review of Gastrointestinal Polyposis Syndrome
Cronkhite-Canada syndrome is a rare condition causing gut polyps, hair loss, skin changes, and nail issues, often with a poor outlook.
research Banding Pattern on Polarized Hair Microscopic Examination and Unilateral Polymicrogyria in a Patient With Steroid Sulfatase Deficiency
A patient with steroid sulfatase deficiency had a unique hair pattern and a brain malformation not previously linked to the condition.
research El teorema del 0,7 o el otro teorema de Pitágoras
A CCS patient with severe complications was successfully treated using combined therapies.
research Ectrodactyly, Soft‐Tissue Syndactyly, and Nodulocystic Acne: Coincidence or Association?
The case suggests a possible link between severe acne and certain bone deformities.
research Hypoparathyroidism as the single major component for decades of autoimmune polyglandular syndrome type 1
A man with hypoparathyroidism had other health issues that led to a diagnosis of a rare autoimmune disorder, APS-1.
research Lineage‐specific requirements of Alx4 function in craniofacial and hair development
ALX4 is crucial for normal craniofacial and hair development, with specific roles in different cell types.
research Alopecia areata
Alopecia areata involves immune response and gene changes affecting hair loss.
research A woman with iatrogenic androgenetic alopecia responding to finasteride
EF and PXE not closely related.
research “Anisotrichosis”: A novel term to describe pattern alopecia
The document suggests "anisotrichosis" as a new term for hair thickness variation in common baldness.
research Association between angiotensin‐converting enzyme gene insertion deletion polymorphism and androgenetic alopecia susceptibility among Egyptian patients: A preliminary case‐controlled study
Certain gene variations may increase the risk of hair loss in Egyptians.
research Eosinophilia versus atopy as a predictor of severe phenotypes in alopecia areata
Both atopy and eosinophilia are linked to more severe hair loss in people with alopecia areata.
research Mice with Alopecia, Osteoporosis, and Systemic Amyloidosis Due to Mutation in Zdhhc13, a Gene Coding for Palmitoyl Acyltransferase
A gene mutation in mice causes hair loss, weak bones, and protein buildup, showing how protein processing issues can lead to diseases.
research CCDC47 gene and trichohepatoneurodevelopmental syndrome: Report of the fifth and sixth cases from Saudi Arabia
Trichohepatoneurodevelopmental syndrome (THNS) is an ultra-rare disorder characterized by liver dysfunction, hypotonia, developmental delay, coarse hair, and dysmorphic features. This report describes the fifth and sixth cases of THNS from Saudi Arabia, both presenting with these symptoms. Genetic analysis revealed pathogenic variants in the CCDC47 gene: a homozygous variant in Case 1 and two heterozygous variants in Case 2, confirmed to be in trans phase through parental testing. These findings contribute to a stronger gene-disease association and help clarify the clinical phenotype and mutational spectrum of THNS.
research Localized in vivo genotypic and phenotypic correction of the albino mutation in skin by RNA-DNA oligonucleotide
research Deciphering the pathogenesis of central centrifugal cicatricial alopecia
Mutations in the PADI3 gene may cause central centrifugal cicatricial alopecia in women of African ancestry.
research Common genetic hair shaft abnormalities may be visualized by light and electron microscope
Genetic hair shaft abnormalities can be seen with microscopes and often affect scalp hair.
research Molecular basis of hypotrichosis with juvenile macular dystrophy in two siblings
A specific gene mutation causes hair loss and potential eye issues, even if vision seems normal.
research Reconsidering the Polycystic Ovary Syndrome (PCOS)
PCOS should be reclassified into two types based on hormone levels and symptoms.
research BAF200 Is Required for Heart Morphogenesis and Coronary Artery Development
BAF200 is essential for proper heart and coronary artery formation.
research Cholesterol homeostasis in hair follicle keratinocytes is disrupted by impaired ABCA5 activity
Impaired ABCA5 activity disrupts cholesterol balance in hair follicle cells, affecting hair growth.