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Mutations in the AP1B1 gene cause a new syndrome with skin, hearing, and developmental issues.

Trichoscopy is a helpful tool for diagnosing Netherton syndrome.

Rituximab may be an effective treatment for Cronkhite-Canada syndrome with kidney disease.

DGAT1 enzyme is crucial for healthy skin and hair by regulating retinoid levels.

Targeting protein S-palmitoylation could lead to new skin disease treatments.

Seborrheic dermatitis may contribute to the development of central centrifugal cicatricial alopecia.

Biotinidase deficiency has various symptoms and can be treated with biotin supplements.

A new AIRE gene mutation causes rare autoimmune symptoms in a Lebanese boy.

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

People with Birt-Hogg-Dubé syndrome often have lung problems and delayed diagnosis, and better recognition of CT scan signs could improve diagnosis and management.

Patients with both connective tissue disease and acid reflux are more likely to have certain symptoms and physical signs.

A 5-year-old girl has lipoid proteinosis, causing voice issues, hair thinning, skin lesions, and tongue movement problems.

ICL is a condition with low CD4+ T cells like AIDS but not caused by HIV, and normal CD4+ T cell counts may vary between men and women.

Recognizing RSCC is crucial due to its aggressive nature and high risk of poor outcomes.

An infant with seizures and hair loss was diagnosed with biotinidase deficiency and treated successfully with biotin.

New mutations in the VDR gene cause vitamin D-resistant rickets without hair loss.

Blocking the NOTCH pathway can prevent fibrosis in systemic sclerosis.

People with seborrheic dermatitis often have lower vitamin D levels.

Pregnancies in a woman with the Donohue mutation were managed with genetic testing, resulting in three healthy infants.

Lack of a key enzyme causes severe skin issues and death in mice.

Skin issues from chronic graft-versus-host disease greatly affect daily life, needing teamwork between blood and skin doctors.

The Dfl mutation in mice causes poor sebaceous gland function and complete hair loss.

Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.

Mutations in the KRT85 gene cause hair and nail problems.

Inhibiting ODC can prevent UV-induced skin cancer.

Some parents have a mild form of congenital adrenal hyperplasia without symptoms, and they usually don't need treatment.

Females with 5 alpha-reductase-2 deficiency have less body hair, no acne, normal fertility, and delayed menarche.

Desmocollin 1 helps maintain skin structure during fetal development.

A 37-year-old male with severe skin and internal issues has a rare inherited skin condition called dystrophic epidermolysis bullosa.