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A 13-year-old boy with a rare genetic condition survived a heart attack and improved with treatment.

A new IL6ST gene variant may cause a unique form of hyper-IgE syndrome with skin abscesses and high IgE levels.

People with anhidrotic ectodermal dysplasia may get severe bronchitis if exposed to dust.

The hr gene is crucial for skin and hair health, with mutations causing hair disorders.

KLHL24-mutant stem cells help understand skin and heart disease.

The BHBS is a valid tool to study cultural norms and breast cancer risk in Black women.

Pimozide treatment resolved cysts and partially restored cheek fat in a man with Barraquer–Simons syndrome.

Woodhouse-Sakati syndrome can cause writer's cramp and other varied symptoms, highlighting the importance of genetic testing for diagnosis.

Quick diagnosis and biotin treatment can dramatically improve biotinidase deficiency symptoms.

The grand round helps improve diagnoses and suggests new treatments for hair disorders.

The LMNA mutation affects skin structure even in asymptomatic carriers.

Baricitinib and its combination with lonafarnib improve fat cell formation in certain genetic disorders.

Most women with excessive hair growth have a hormonal cause.

An 80-year-old woman with Cronkhite-Canada syndrome had multiple polyps and symptoms like diarrhea, hair loss, nail issues, and dark skin.

The document adds two cases of Gomez-Lopez-Hernandez syndrome and suggests including trigeminal anesthesia and scalp alopecia as key diagnostic criteria.

Young HS patients often have other physical and mental health issues, and research on HS covers a wide range of topics including genetics, triggers, treatments, and the need for more data.

Vogt-Koyanagi-Harada disease affects vision and skin, mainly in people with darker skin, and is treated with steroids and immunosuppressants.

A new gene mutation causes insulin resistance in a girl and her mother.

Black hairy tongue can be an early sign of graft-versus-host disease after stem cell transplants.

The infant was diagnosed with Rothmund-Thomson syndrome, a rare genetic disorder causing various physical and developmental issues.

A woman's hyperandrogenism was caused by a genetic mutation leading to non-classic adrenogenital syndrome.

The patient has a rare skin condition that shows features of two known disorders.

The patient with a misplaced pituitary gland and interrupted pituitary stalk is being treated with hormone replacement.

Cantú syndrome may be linked to pituitary adenomas.

New genetic variants linked to albinism were found in Pakistani families.

Two sisters with Netherton's syndrome had skin and hair issues, needing special diet and ointments.

Early diagnosis and genetic evaluation of ADULT syndrome are crucial to reduce stress and medical costs.

A 9-year-old Hispanic girl has Uncombable Hair Syndrome, which may improve with age and biotin treatment.

Excessive body hair can signal complex health issues.