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Carriers of a specific gene mutation have subtle skin changes without visible symptoms.

Mutations in the LIPH gene cause woolly hair in a child.

Clouston syndrome is inherited in an autosomal dominant pattern and caused by a specific gene mutation, with no current treatment available.

Cicatricial pattern hair loss is likely advanced common baldness, not a type of lichen planopilaris.

A small change in the TRPS1 gene leads to a less severe form of a syndrome affecting hair, nose, and finger development.

The condition might be caused by genetic changes after birth.

A young woman with visual issues and other symptoms was diagnosed with lupus and antiphospholipid syndrome, and improved with treatment.

A rare genetic mutation in the EGFR gene caused severe skin issues and other health problems in a Slovakian girl, who is now 4 years old and receiving care.

Cronkhite-Canada syndrome may be more treatable and less severe than previously thought.

Cronkhite-Canada syndrome is a rare, non-inherited condition causing various symptoms like polyps, hair loss, and weight loss.

A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.

Some people with lichen planus pigmentosus might later develop frontal fibrosing alopecia.

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

Early recognition and multidisciplinary management of Whitaker syndrome can improve patient outcomes.

A rare skin condition in a boy is likely due to a specific genetic mutation pattern.

Pityriasis rubra pilaris can occur with myasthenia gravis.

A new genetic mutation in the CAST gene may link PLACK syndrome to alopecia areata.

Woodhouse-Sakati syndrome can cause writer's cramp and other varied symptoms, highlighting the importance of genetic testing for diagnosis.

A boy with GAPO syndrome had hair loss similar to male pattern baldness without hormone issues, possibly due to skin or blood vessel problems.

An 80-year-old woman with Cronkhite-Canada syndrome had multiple polyps and symptoms like diarrhea, hair loss, nail issues, and dark skin.

Hair loss in Cronkhite-Canada syndrome may be due to an autoimmune response.

A boy with long QT syndrome was treated successfully, highlighting the need for careful evaluation of chest pain in children for heart conditions like LQTS.

Congenital atrichia with papular lesions is often misdiagnosed, and new diagnostic criteria can improve accuracy.

A 56-year-old man was diagnosed with Cronkhite-Canada Syndrome after showing symptoms like diarrhea, weight loss, and skin changes.

A 27-year-old with APS-1 showed improvement in symptoms after treatment.

A rare genetic mutation causes Woodhouse-Sakati syndrome symptoms.

LIPH mutations cause woolly hair in some Chinese people.

A rare genetic mutation caused severe symptoms in a 6-year-old girl with mandibuloacral dysplasia type A.

The report described a unique case of Cronkhite-Canada syndrome with unusual polyps and an association with multiple myeloma.