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A woman with acromegaloidism and normal growth hormone levels had a rare X-Tetrasomy, suggesting a need to study X-chromosome genes for their role in growth and facial development.

A new ARID1B gene variation causes Coffin-Siris syndrome 1 and early high myopia in a Chinese family.

Mixed Connective Tissue Disease can develop from overlapping symptoms of several autoimmune diseases, making diagnosis complex.

The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.

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

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.

Mutations in the DSG4 gene cause a severe form of brittle hair and skin issues.

A 15-year-old boy was correctly diagnosed with a rare skin condition after initially being misdiagnosed.

Acneiform follicular mucinosis can be controlled with systemic corticosteroids.

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

Frontal fibrosing alopecia can occur in children, not just postmenopausal women.

Mouse Scube3 affects teeth, tongue, vibrissae, and eye development, but not facial structure or limb growth.

Get head MRI for babies with achondroplasia early, use free immunoglobulin light chains to detect certain neurodevelopmental disorders, and video calls work for speech therapy in patients with facial anomalies.

Olmsted syndrome is a rare skin disorder causing thickened skin and other symptoms.

A woman with lupus developed rare skin growths that went away on their own.

A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.

A 13-year-old boy with a rare scalp condition improved significantly with isotretinoin, minoxidil, oral steroids, and antiseptic shampoo.

People with Down syndrome have a higher risk of skin disorders and need better screening and treatment.

Two siblings had a rare immune disorder caused by a FOXN1 gene mutation.

Three siblings with a rare genetic condition had abnormal sexual development and chose different gender identities, needing surgery and therapy.

Treatment with prednisolone and dapsone stopped new blisters and partially healed previous ones.

People with Down's syndrome often have more skin problems due to a weak immune system.

Msx2-deficient mice experience irregular hair growth and loss due to disrupted hair cycle phases.

Overexpression of the glucocorticoid receptor in mice causes developmental defects similar to ectodermal dysplasia.

Juvenile dermatomyositis can worsen quickly and needs strong treatment.

Facial contouring is crucial for the satisfaction and well-being of Chinese transgender females.

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