research Cronkhite-Canada syndrome: Report of an unusual case
The report described a unique case of Cronkhite-Canada syndrome with unusual polyps and an association with multiple myeloma.
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research Disruption of the hedgehog signaling pathway contributes to the hair follicle cycling deficiency in Vdr knockout mice
Mice without Vitamin D receptors have hair growth problems because of issues in the hedgehog signaling pathway.
research Case of autosomal recessive woolly hair/hypotrichosis with compound heterozygous mutations in the LIPH gene at c.742C > A and c.614A > G: The first Japanese case
The first Japanese case of a genetic hair disorder caused by specific mutations in the LIPH gene was identified.
research A new case of Ambras syndrome associated with a paracentric inversion (8) (q12; q22)
Ambras syndrome's genetic cause is unknown, as it isn't linked to androgen levels.
research SAT-214 Satoyoshi Syndrome: A Rare Cause of Premature Ovarian Failure
Satoyoshi syndrome can occur without causing premature ovarian failure.
research Netherton Syndrome in a 9-Month-Old Child: Unraveling a Complex Dermatologic Disorder
Early diagnosis and comprehensive management improve life quality for Netherton syndrome patients.
research Androgenic alopecia associated with the HSD3B1 (1245a>c) in overweight women with polycystic ovarian syndrome
The HSD3B1 variant increases hair loss risk in overweight women with PCOS.
research Body Composition and Characterization of Skinfold Thicknesses from Polycystic Ovary Syndrome Phenotypes. A Preliminar Case-Control Study
Women with PCOS have higher body fat and skinfold thickness, especially in the H-O-POM phenotype.
research Whitaker syndrome: A case report of autoimmune polyendocrine syndrome type 1 with dilated cardiomyopathy
Early recognition and multidisciplinary management of Whitaker syndrome can improve patient outcomes.
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 The SAHA Syndrome
SAHA syndrome links oily skin, acne, excess hair, and hair loss in women, similar to PCOS.
research Variations in anterior segment parameters among different phenotypes of polycystic ovary syndrome
PCOS may increase eye pressure and corneal thickness, affecting eye health.
research A case of cutis verticis gyrata developing in a patient with primary scarring alopecia: A unique presentation of a rare disorder
A rare scalp condition, cutis verticis gyrata, was found in a woman with primary scarring alopecia.
research Eruptive vellus hair cysts: an original case occurring in twins
Twins had rare skin cysts likely due to genetics.
research Hair: more than just an appendage
A boy and his father with hereditary hypotrichosis simplex were treated for hair loss, but the treatment result is unknown.
research SAHA syndrome: female androgenetic alopecia and hirsutism.
research A Prospective Study of Dermoscopic and Ultrastructural Features of Vitiligo-Associated Leukotrichia
The study found that white hair in vitiligo has specific patterns and structures, which vary with the stage of the disease and may be similar to another hair condition.
research BH15 Nonsyndromic hypotrichosis: a rare case of congenital hypotrichosis 15 and management with minoxidil
Topical minoxidil may help improve hair growth in rare congenital hypotrichosis.
research Ugreelig hår
A young boy's uncombable hair is due to a rare genetic condition that usually improves over time.
research Biochemical features of primary cells from a pediatric patient with a gain-of-function ODC1 genetic mutation
A new genetic disorder caused by an ODC1 mutation can be treated with DFMO.
research Trichostasis Spinulosa of the Heel: Unique Presentation with Characteristic Morphology
A rare skin condition usually on the face was found on a man's heel.
research Metabolic Syndrome and Insulin Resistance Syndrome among Infertile Women with Polycystic Ovary Syndrome: A Cross-Sectional Study from Central Vietnam
Many infertile women with PCOS in Central Vietnam have metabolic or insulin resistance syndrome, with obesity and older age increasing the risk.
research Anterior, frontal congenital triangular alopecia, redundancy in therapy without improvement
Recognizing congenital triangular alopecia is crucial to avoid unnecessary treatments.
research Four hypotrichosis families with mutations in the gene LSS presenting with and without neurodevelopmental phenotypes
Mutations in the LSS gene cause hair loss and may affect brain development, with varying severity.
research Rare virilizing tumor: ovarian steroid cell tumor, not otherwise specified: a case report
A 20-year-old woman was found to have a rare ovarian tumor causing symptoms like acne and a low-pitched voice, which disappeared after the tumor was removed.
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 Hereditary Vitamin D Resistant Rickets: Clinical, Laboratory, and Genetic Characteristics of 2 Iranian Siblings
Two siblings with a genetic mutation had a form of rickets that doesn't respond to vitamin D.
research Frontal Fibrosing Alopecia and Vitiligo: Coexistence or True Association
Frontal fibrosing alopecia and vitiligo might be linked, not just coincidental.
research SUN-069 A 14 Year Old Female with Primary Amenorrhea
A 14-year-old girl with no menstrual period was diagnosed with Swyer Syndrome and treated for a related cancer risk.
research Porokeratotic Eccrine Duct and Hair Follicle Nevus (PEHFN) Associated with Keratitis-Ichthyosis-Deafness (KID) Syndrome
A 15-year-old with KID syndrome developed a rare skin condition called PEHFN.