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A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.

IFAP syndrome is a rare genetic disorder causing skin, hair, and eye issues, with limited treatment options.

The keratin 5 mutation in a family with epidermolysis bullosa simplex was due to mosaicism, not a new mutation.

A genetic marker linked to a type of hair loss was found in most patients studied.

A six-year-old boy with excessive hair growth and other symptoms may have a genetic link on chromosome 17q, requiring regular medical follow-ups.

Certain genetic variants reduce enzyme activity, contributing to non-classic congenital adrenal hyperplasia.

A girl with skin rashes and low zinc levels improved with zinc supplements and had new gene mutations linked to her condition.

CARASIL can cause different symptoms even with the same genetic mutation.

Replenishing iron after phlebotomy can cause relapse in porphyria cutanea tarda.

Cronkhite-Canada syndrome causes chronic diarrhea and has a poor prognosis despite treatment.

An infant had two different natural hair colors on the scalp with no health issues.

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

A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.

A specific gene mutation causes varying hair loss severity in a Pakistani family.

A new genetic disorder caused by an ODC1 mutation can be treated with DFMO.

Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.

A 2-year-old boy was diagnosed with a rare genetic condition causing fragile hair, intellectual issues, and short stature.

Chemotherapy improved a girl's painful foot condition linked to pachyonychia congenita.

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

Specific keratin gene mutations can cause monilethrix.

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

A rare genetic variant linked to skin cysts was found in blood DNA, suggesting its role in cyst formation.

Certain genetic variants are linked to frontal fibrosing alopecia in Spanish patients.

A new severe form of monilethrix syndrome includes hair loss, scalp itching, cataracts, and distinct facial features.

Monilethrix causes brittle hair and hair loss, and it runs in families.

Mutations in the HOXC13 gene cause hair and nail development issues.

A rare EGFR mutation in newborns leads to severe health issues and early death.

Topical minoxidil may help treat a rare genetic hair condition with no fully effective treatments yet.

A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.