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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.

A new genetic change causing early stop in the androgen receptor gene was found in a patient with androgen insensitivity syndrome.

People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.

A 70-year-old woman with a rare skin condition improved after treatment with topical steroids and acitretin.

A TNFAIP3 gene mutation can cause unusual and varied symptoms of lupus and Sjogren's syndrome.

Hoyeraal-Hreidarsson syndrome in infants causes severe gastrointestinal issues.

An 8-year-old boy with Recklinghausen's Disease shows various symptoms and is from a family with close genetic ties.

Lurasidone is effective for bipolar depression and schizophrenia, but more safety data is needed.

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

A 46-year-old man showed symptoms of a rare condition usually seen in postmenopausal women, highlighting the need for dentist-dermatologist collaboration.

A boy's growth and immune problems were caused by a new mutation in the STAT5B gene.

Higher Lnk protein levels in ovaries may lead to insulin resistance in women with PCOS.

GAPO syndrome causes growth issues, hair loss, missing teeth, and vision problems.

New gene variants linked to a rare inherited hair loss disorder were found in three Chinese families.

Genetic testing is crucial for diagnosing congenital atrichia, a rare condition causing irreversible hair loss.

Graham-Little syndrome causes hair loss and skin bumps, with difficult treatment options.

A specific gene mutation causes sparse, brittle hair in a family.

A genetic mutation in the LIPH gene causes hair loss and growth defects.

Hormonal changes and social stress may link lupus and eating disorders in teens.

ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.

A deficiency in the TTC7A gene causes immune problems, gut issues, and hair loss.

A Nigerian teenager was diagnosed with neuropsychiatric lupus, showing various severe symptoms and abnormal lab results.

Some hair loss disorders are caused by genetic mutations affecting hair growth.

A rare gene variant causes hair and nail issues in a family.

Early diagnosis and multidisciplinary care are crucial for managing CNOT3 syndrome.

Skin lesions in Carney Complex are caused by a gene change in some skin cells that leads to increased pigmentation and may lead to tumors.

Liver disease is linked to hair loss, especially in women and those with unhealthy lifestyles.

Woolly hair syndrome is a genetic condition causing frizzy, fragile hair.

A child with skin and tooth symptoms was found to have a genetic mutation causing cardiocutaneous syndrome, leading to heart problems.

Neonatal lupus symptoms usually resolve, but some children may develop other autoimmune diseases later.