research Isolated patchy heterochromia with pili annulati features on light and electron microscopy
Isolated patchy heterochromia with pili annulati can occur without other health issues.
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research S2608 A Rare Case of Iron Deficiency Anemia: Cronkhite-Canada Syndrome
Cronkhite-Canada syndrome is rare, with high mortality and cancer risk, needing more research for treatment guidelines.
research State-dependent signaling by Cav1.2 regulates hair follicle stem cell function
Cav1.2 affects hair growth and could be a target for hair loss treatments.
research Iatrogenic Cushing's Syndrome in a Patient With Salt-Wasting Congenital Adrenal Hyperplasia (SWCAH)
A patient with congenital adrenal hyperplasia improved after adjusting her medication to prevent Cushing's syndrome symptoms.
research Overactivated sonic hedgehog signaling aggravates intrauterine adhesion via inhibiting autophagy in endometrial stromal cells
Overactive sonic hedgehog signaling worsens uterine scarring by reducing cell recycling.
research A Rare Case of Steroid Cell Tumor, Not Otherwise Specified (NOS), of the Ovary in a Young Woman
A young woman's rare ovarian tumor was successfully removed, improving her hormonal symptoms.
research Multiple endocrine defects in adult-onset Sprouty1/2/4 triple knockout mice
Removing Sprouty genes in mice causes various hormone-related issues but does not increase cancer risk by one year of age.
research Hyperandrogenism in a Postmenopausal Woman Secondary to Testosterone Secreting Ovarian Stromal Tumor with Acoustic Schwannoma
A 63-year-old woman's male-like symptoms were caused by a rare testosterone-producing ovarian tumor, treated by removing her ovaries and fallopian tubes.
research Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome in a Saudi Child: A Case Report
An 8-year-old Saudi boy was diagnosed with a rare genetic disorder causing hair loss, skin issues, and light sensitivity.
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 Rare Diagnosis of a Proliferating Pilar Tumor in a Facial Hairline Cryst
The lump on a woman's scalp was a rare, potentially cancerous tumor from the hair follicle, not a common cyst.
research Eyebrow alopecia: centrofacial trichoblastomatosis
Recognizing eyebrow hair loss linked to a rare skin condition is crucial for proper treatment.
research Premature isolated adrenarche in a six-year-old girl
A six-year-old girl has early signs of puberty, needs no treatment, but requires regular check-ups for future health risks.
research Ovarian intratumoral 21-hydroxylase deficiency in a postmenopausal hirsute woman
A postmenopausal woman's masculine symptoms improved after surgery for a hormone-producing ovarian tumor.
research Incidence of trichostasis spinulosa at a single institution in Yemen
Trichostasis spinulosa is common but often underdiagnosed, mainly affecting women's faces.
research Congenital adrenal hyperplasia
CAH is a genetic disorder affecting cortisol production and causing hormonal imbalances, with treatment and diagnosis varying by form and symptoms.
research Bilateral circumscribed haemangioma of the choroid not associated with systemic vascular syndrome
Intralesional cidofovir might be a good alternative treatment.
research The Case Files
Thyroid storm is hard to diagnose due to vague symptoms but needs urgent attention.
research Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome
IFAP syndrome is a rare genetic disorder causing skin, hair, and eye issues, with limited treatment options.
research A 9-month-old infant with severe scalp dermatosis
The infant likely has Hay-Wells syndrome and needs genetic testing and heart screening.
research Carotid Body Tumor: Review of the Literature and Report of a Case With a Rare Sensorineural Symptomatology
A man's rare tumor caused unusual nerve-related symptoms that improved after surgery.
research 139 Anti-BCC efficacy of a topical hedgehog inhibitor without adverse effects in BCNS patients in a phase 2 randomized controlled trial
Topical patidegib gel effectively treats basal cell carcinoma in Gorlin syndrome patients without causing the side effects seen with oral treatments.
research PSAT001 A Case of Ectopic Cushing's Syndrome Complicated by COVID-19 Infection
A woman with ectopic Cushing's syndrome and COVID-19 passed away despite treatment.
research Trias of keratosis pilaris, ulerythema ophryogenes and 18p monosomy: Zouboulis syndrome
Zouboulis syndrome is a rare condition that helps diagnose monosomy 18p early.
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 Case report - Hair shaft normalization and hair growth in SPINK5-syndromic epidermal differentiation disorder (Netherton syndrome) while on treatment with dupilumab: a novel therapeutic approach for Trichorrhexis invaginata
Dupilumab improved hair and skin in a woman with Netherton syndrome.
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 Encephalocraniocutaneous lipomatosis: congenital alopecia treatment in a rare neurocutaneous syndrome
A girl with a rare syndrome had successful hair loss treatment with no relapse after 4 years.
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 Epithelial Integrity Is Maintained by a Matriptase-Dependent Proteolytic Pathway
Matriptase is crucial for keeping epithelial tissues healthy and functioning properly.