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A patient with a PLEC mutation has epidermolysis bullosa, muscular dystrophy, and myasthenia gravis, which improved with steroid treatment.

Hair dysplasias involve various hair disorders causing fragility, breakage, and poor hair adhesion.

Two sisters had a rare hair condition without other usual symptoms.

A specific gene change plus an additional mutation in the same gene cause hereditary trichilemmal cysts.

Trichoscopy helps accurately diagnose Netherton syndrome, often mistaken for atopic dermatitis.

Steroid treatment improved both gut and nerve symptoms in a man with Cronkhite–Canada syndrome.

Stress may cause sudden hair whitening in children.

A rare skin condition with cysts was found on a 5-year-old boy's scalp.

Netherton's disease causes multiple hair defects.

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

A patient with a new PLEC gene mutation showed symptoms of both muscular dystrophy and myasthenia gravis, which improved with steroid treatment.

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

Recognizing the "bamboo hair defect" is crucial for diagnosing Netherton's syndrome.

Netherton syndrome causes skin and hair issues, confirmed by "bamboo hair" under dermoscopy, with no cure but managed with topical treatments.

Early diagnosis of leprosy is crucial to prevent disabilities and spread, even in non-endemic areas.

A child with Olmsted syndrome showed mild improvement in hair and skin issues with treatment.

Cronkhite-Canada syndrome can cause multiple gastrointestinal polyps and various physical symptoms.

The boy's symptoms suggest a possible new medical condition.

Hyperaesthetic leucotrichia in horses causes painful, recurring skin lesions and hair color changes, especially in Arabian and American paint horses.

MFN2 mutations cause mitochondrial problems, unusual fat distribution, and low leptin despite high body fat.

A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.

The donkey had a severe disease affecting multiple organs and was euthanized.

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

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

Eyelash loss can be a sign of thyroid problems.

Early diagnosis of Bloch-Sulzberger Syndrome is crucial to prevent severe complications.

A multidisciplinary approach is crucial for managing Silver-Russell syndrome effectively.

Hypertrichosis causes excessive hair growth and needs psychological support due to its impact on self-esteem.

A painless cheek lump was misdiagnosed but found to be a rare, benign skin lesion called pilomatrixoma, treatable by surgery.