research Role of Trichoscopy in diagnosing Genotrichosis—A Report of Two Cases
Trichoscopy is crucial for diagnosing rare genetic hair disorders.
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research ADRENOCORTICAL ADENOMA AS A CAUSE OF HYPERANDROGENISM SYNDROME IN A GIRL: THE PATH TO DIAGNOSIS
A young girl's hyperandrogenism was caused by an adrenocortical adenoma, diagnosed and treated through detailed evaluations.
research Skin Manifestations in Primary Immunodeficient Children
Nearly half of children with primary immunodeficiency disorders showed skin problems, often as the first sign of their condition.
research Mutations in KLHL24 Add to the Molecular Heterogeneity of Epidermolysis Bullosa Simplex
Mutations in the KLHL24 gene cause skin blistering in epidermolysis bullosa simplex.
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 Mania in Hyperandrogenism, Insulin Resistance, and Nigricans Acanthosis Syndrome
Stopping birth control pills may have triggered a manic episode in a woman with HAIR-AN syndrome.
research The Effect of the Aqueous Extract of Bidens Pilosa L. on Androgen Deficiency Dry Eye in Rats
Bidens pilosa L. extract effectively treats androgen deficiency dry eye in rats.
research O19 CYLD cutaneous syndrome tumours demonstrate increased NF-κB signalling and diminished collagen organisation.
Skin tumors with CYLD cutaneous syndrome show more NF-κB activity and less organized collagen.
research Gastrointestinal polyposis with protein-losing enteropathy, abnormal skin pigmentation and loss of hair and nails (Cronkhite-Canada syndrome)
Cronkhite-Canada Syndrome often leads to death within 6-18 months.
research Secondary Amenorrhea in a 15-year-old Girl
A 15-year-old girl with missed periods was diagnosed with a pituitary disorder and treated with hormones and steroids.
research Neurochemical and Immunocytochemical Studies of Catecholamine System in the Brindled Mouse
Brindled mice show abnormal catecholamine neuron development due to copper deficiency.
research Renal Carcinoma Presenting with Adrenocortical Insufficiency Due to a Pituitary Metastasis
A man's adrenal insufficiency was caused by a pituitary tumor linked to kidney cancer.
research Congenital atrichia with papular lesions
Congenital atrichia with papular lesions causes permanent hair loss and skin bumps due to a gene mutation.
research 5116 Postmenopausal Hyperandrogenism due to Rare Ovarian Tumor
Rare ovarian tumors can cause hyperandrogenism, even if imaging appears normal.
research Child with De Novo t(1;6)(p22.1;p22.1) translocation and features of ectodermal dysplasia with hypodontia and developmental delay
A chromosomal change may cause ectodermal dysplasia and developmental issues in a child.
research A frameshift mutation in HTRA1 expands CARASIL syndrome and peripheral small arterial disease to the Chinese population
A new genetic mutation linked to CARASIL syndrome and small artery disease was found in a Chinese family.
research Molecular–clinical correlations in a family with variable tissue mitochondrial DNA T8993G mutant load
Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.
research (16) The Graham-Little syndrome Follicular keratosis with cicatricial alopecia
Graham-Little syndrome causes scarring hair loss and skin bumps.
research [Commentary] The Polyfollicular Anovulatory Androgenic Syndrome: A New Label for an Old Syndrome
Mohamed Kandil suggests renaming Polycystic Ovary Syndrome to "Polyfollicular Anovulatory Androgenic Syndrome" to better describe its symptoms, but concerns exist that it may not cover all related issues like obesity and depression.
research A Novel Androgen Receptor Gene Mutation in a 46,XY Patient: Complete Androgen Insensitivity Syndrome
A new gene mutation causes complete androgen insensitivity in a 16-year-old with a female appearance.
research GLOMERULAR MEMBRANOUS NEPHROPATHY AND WERNER SYNDROME: A CASE REPORT
A potential genetic link between Werner syndrome and kidney disease was suggested.
research A New CARASIL Family: Recurrent Lobar Hemorrhage as a Novel Characteristic of the Disease
CARASIL can cause different symptoms even with the same genetic mutation.
research Autosomal recessive hereditary hypotrichosis simplex: A case report
A 21-month-old boy has a rare genetic disorder causing sparse hair due to an LSS gene mutation.
research Precocious puberty in a 24 month old Nigerian girl: case report
A 24-month-old Nigerian girl developed early puberty with no family history, needing treatment her family couldn't afford.
research A New Case of Isolated Trichothiodystrophy
A rare case of isolated trichothiodystrophy was identified, marked by brittle hair with low sulfur content.
research MIXED CONNECTIVE TISSUE DISEASE EVOLVING FROM THE SEQUENTIAL OVERLAP OF SYSTEMIC LUPUS ERYTHEMATOSUS, SJÖGREN’S SYNDROME, RHEUMATOID ARTHRITIS AND DERMATOMYOSITIS: A FOLLOW-UP
Mixed Connective Tissue Disease can develop from overlapping symptoms of several autoimmune diseases, making diagnosis complex.
research Congenital atrichia with papular lesions
Congenital atrichia with papular lesions causes permanent hair loss and skin bumps from birth.
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.
research Papilledema and Hypervitaminosis A
Excessive vitamin A can cause symptoms that mimic serious brain conditions.