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Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.

Two boys had a rare skin condition needing to be differentiated from similar disorders, with unclear inheritance due to few cases.

Congenital atrichia with papular lesions causes permanent hair loss and skin bumps from birth.

Studying premature aging syndromes helps understand human aging and suggests potential treatments.

A woman had a rare, non-cancerous skin growth on her face, which was removed and did not come back after a year.

Managing rare genetic diseases like osteogenesis imperfecta and Escobar syndrome is complex and requires both medical and surgical treatments.

Hair dysplasias involve various hair disorders causing fragility, breakage, and poor hair adhesion.

Frontal fibrosing alopecia can be diagnosed by examining facial areas and treated with specific medications to stop its progression.

The study found no common cause for a girl's crystalline cataract and uncombable hair, suggesting their co-occurrence might be coincidental.

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

A 39-year-old woman developed uncombable hair syndrome after taking oral contraceptives.

Hereditary elliptocytosis causes elongated red blood cells and can lead to mild or no symptoms.

Early diagnosis and surgery can improve symptoms of ovarian hyperthecosis in postmenopausal women.

A new CDH3 gene mutation was found in a Spanish patient with sparse hair and eye issues.

A rare benign tumor with hair follicle features was found on a man's trunk.

People with Down's syndrome are more likely to have syringomas.

Removing the liver tumor improved the patient's skin condition and hair growth.

Children with alopecia areata, especially with Down syndrome or thyroid issues, should be screened for thyroid disease.

ECCL should be considered in patients with specific skin and eye lesions.

The patient was diagnosed with oral lichen sclerosus and needs long-term monitoring.

Clouston syndrome can lead to skin cancer, so monitoring is crucial.

Elderly patients with eruptive skin bumps may have clear cell syringoma linked to glucose issues.

A person got uncombable hair syndrome from two copies of chromosome 1 from their mother.

FPHL common in Taiwanese women; risk factors include BMI, high glucose, early puberty, fewer childbirths, oral contraceptives, and UV exposure.

Hairy elbows may be linked to short stature, but the exact cause is unclear.

The removal of the adrenal tumor improved the patient's symptoms and reduced androgen levels, indicating successful surgery.

Hirsutism is mainly caused by high androgen levels or sensitivity, with PCOS being the most common cause.

The cause of Frontal fibrosing alopecia, a type of hair loss, is complex, likely involving immune responses and genetics, but is not fully understood.

Woman has discoid lupus, frontal fibrosing, and androgenetic alopecia.

The patient likely has Chrousos syndrome, a rare condition causing insensitivity to glucocorticoids, requiring high-dose dexamethasone treatment.