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A girl with a rare genetic disorder had a unique bone condition, highlighting the need for careful diagnosis and suggesting the disorder might be more common than thought.

Using titanium mesh and thigh tissue is effective for complex scalp reconstruction.

5α-reductase deficiency can cause ambiguous genitalia and gender dysphoria, treatable with testosterone.

A 7-year-old girl had a non-painful skin growth at her belly button, which was removed and identified as a keratinous cyst.

A woman's male-pattern facial hair growth was caused by a rare malignant ovarian tumor that was difficult to diagnose and treat.

Laser treatments are the most effective for porokeratotic adnexal ostial nevus.

Non-motor symptoms in myasthenia gravis are common and need early diagnosis for better management.

Stereotactic Radiosurgery is an effective non-invasive treatment for cerebral AVM, with successful outcomes and minimal side effects.

The twins' condition is unique and doesn't match any known syndromes.

A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.

All major hair defects involve cuticle abnormalities.

Matriptase is crucial for keeping epithelial tissues healthy and functioning properly.

Researchers found a new mutation in the LIPH gene of a woman with a rare hair condition.

Keratoacanthoma and some squamous cell carcinomas are linked to hair follicles, while others are not.

HAT-L4 is crucial for preventing body fluid loss by maintaining skin barrier integrity.

A new gene mutation may cause cyclic thrombocytopenia by affecting platelet production.

Individuals with this condition often develop male traits and identities at puberty despite being raised as females.

HLD10 can include increased body hair and Mongolian spots.

A new genetic disorder caused by an ODC1 mutation can be treated with DFMO.

ODC transgenic mice can model human hair loss with skin lesions.

The superficial temporal artery flap is a reliable method for reconstructing complex facial defects with minimal complications.

Early diagnosis and treatment are crucial for managing Berardinelli–Seip syndrome.

An 8-year-old boy's early puberty was caused by a rare hormone-secreting brain tumor, which was successfully treated with surgery.

A man's rare adrenal tumor caused feminization and white hair, was removed surgically, and improved after treatment.

Mutations in the DSG4 gene cause fragile, sparse hair in humans, mice, and rats.

Triangular temporal alopecia is a benign hair loss pattern best diagnosed with dermoscopy, with limited treatment options like surgery and hair transplantation.

Early detection of ovarian steroid cell tumors is crucial to prevent lasting symptoms.

Keratoacanthoma is a common, usually non-dangerous skin tumor that looks like squamous cell carcinoma but rarely becomes severe.

A specific gene mutation in Japanese people can cause varying degrees of hair thinning in adulthood.

Chromosomal microarray analysis is important for diagnosing rare genetic variations and guiding treatment.