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A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.

Early diagnosis and treatment with corticosteroids can improve outcomes in Cronkhite–Canada syndrome.

A Saudi individual initially identified as a girl had a genetic disorder affecting gender development.

A boy's hair turned red because of genetic mutations, not lack of zinc.

New mutations in hair keratin genes can change hair structure and cause monilethrix, with nail issues more common in certain gene mutations.

Three siblings had both Vohwinkel's disease and congenital alopecia, with no effective treatment.

A vitamin D receptor mutation causes rickets and affects immune responses.

A KRT32 gene variant causes loose anagen hair syndrome.

A genetic variant in the KRT25 gene causes tightly curled hair.

The newborn with Klippel-Trénaunay syndrome was healthy but needed regular check-ups for possible complications.

A 19-year-old man had a rare skin condition on one side of his face that looked like another skin disease.

A new gene mutation causes vitamin D resistance and rickets, treatable with calcium therapy.

The AMHR2-482A>G gene change is linked to higher PCOS risk.

Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.

MOF controls skin development by regulating genes for mitochondria and cilia.

Reduced TRPS1 leads to increased STAT3 and SOX9 in hair follicles, affecting hair growth.

A baby from an Indian family had a rare genetic disorder causing no scalp or body hair due to a specific gene deletion.

The research found that a specific gene mutation causes fewer hair follicles and disrupted hair growth cycles, leading to thin and short hair in people with Hypotrichosis with Juvenile Macular Dystrophy.

A Korean girl developed kinky hair without known cause or effective treatment.

MC1R gene variations affect skin, hair color, UV sensitivity, and melanoma risk.

Activating Kras in mouse skin causes excess skin and hair loss.

A 15-year-old with KID syndrome developed a rare skin condition called PEHFN.

Monilethrix, a genetic hair disorder causing fragile hair, affects three generations in a family.

Monilethrix is not caused by a metabolic defect.

A toddler with a rash and developmental delays improved after treatment for severe malnutrition caused by a diet lacking in protein.

Krt16-deficient mice help understand skin disorders like PC and FNEPPK.

A new syndrome may link skin, growth, mental, and hair issues.

New mutations in MBTPS2 reduce its function and cause IFAP syndrome with unusual symptoms.

Acitretin effectively prevented skin cancer in a patient with late-onset Rothmund-Thomson syndrome.

Myotonic dystrophy should be considered in patients with hair thinning, and genetic counseling is important.