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Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.

The woman had a genetic condition causing high cortisol and androgen levels, treatable with dexamethasone.

Trichothiodystrophy is a condition with brittle hair and various physical and mental issues due to low sulfur in proteins.

WNT10A mutations often cause ectodermal dysplasias, with males showing more tooth issues than females.

FOXN1 mutations can cause varying immune and physical issues, with severity influenced by gene activity and possibly other factors.

There is no cure for myotonic dystrophy type 1, so treatment focuses on managing symptoms and complications.

Cantú syndrome may be linked to pituitary adenomas.

Ectodermal dysplasia causes various symptoms and early treatment is important for eye, dental, and skin issues.

A 17-year-old girl and her brothers have a rare hair condition with long eyelashes, thick eyebrows, and easily pluckable hair.

Rare seminoma found in a 33-year-old woman with atypical genitalia and no Y chromosome.

No consistent link between genotype and phenotype in 5-α-Reductase type 2 deficiency.

A chromosomal change may cause ectodermal dysplasia and developmental issues in a child.

The man had myotonia, which caused delayed hand grip relaxation.

Mutations in the desmoplakin gene can cause hair problems and deadly heart disease.

Fox Fordyce disease might be more common in prepubertal girls than thought and can be managed with treatment.

Two new mutations in the CDH3 gene cause hair loss and vision problems in a young girl.

Cats with abnormal hair had DSG4 gene changes causing hair problems.

A new gene variant in the DSP gene is linked to a unique type of hair loss.

Netherton syndrome causes specific skin and hair changes that help in early diagnosis.

A 12-year-old boy with twenty nail dystrophy, a condition affecting all nails, was treated conservatively due to its self-limiting nature and good prognosis.

Cronkhite-Canada syndrome can sometimes show unusual colonic adenomatous polyps.

Nail abnormalities in children can indicate deeper health issues.

A rare skin condition usually found near the eyes was found on a farmer's scalp.

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

The report shows a young man with Hutchinson-Gilford Progeria Syndrome had typical and additional eye problems related to the disease.

Trichothiodystrophy hair is structurally abnormal with protein and organization issues.

CDH3-related disease causes worsening eye and hair issues.

People with Down syndrome often have skin issues and need regular check-ups for early treatment.

A new gene mutation causes female pseudohermaphroditism due to glucocorticoid resistance.

A man's rare adrenal tumor caused feminization and white hair, was removed surgically, and improved after treatment.