Familial woolly hair disease.

Woolly hair

Keywords Disease name Included diseases Definition and diagnosis criteria Differential diagnosis Frequency Clinical description Management and treatment Etiology Diagnostic methods Genetic counseling Unresolved questions References Abstract Woolly hair is a rare congenital abnormality of structure of scalp hair. It is marked by extreme kinkiness of hair in Caucasians. Woolly hair is either alre...

A recessive mutation in desmoplakin causes arrhythmogenic right ventricular dysplasia, skin disorder, and woolly hair.

OBJECTIVES The goal of this study was to analyze the genetic disorder of a family with cardiomyopathy, skin disorder, and woolly hair. BACKGROUND Arrhythmogenic right ventricular dysplasia (ARVD) is a heart muscle disorder causing arrhythmia and sudden cardiac death. We report a patient with familial autosomal recessive ARVD, woolly hair, and a pemphigous-like skin disorder with a new mutatio...

[Woolly hair nevus associated with an ipsilateral linear epidermal nevus].

We report a 4-year-old boy with two areas of woolly hair in the right parietotemporal region and a linear epidermal nevus in the areas of woolly hair as well as in the ipsilateral hemiface and chin. Evaluation by scanning electron microscopy showed woolly hair with oval transverse section and longitudinal groove. A complete examination ruled out associated anomalies.

A case of woolly hair naevus.

Anaesthesia in Naxos disease: first case report.

Naxos disease is a recessively inherited arrhythmogenic right ventricular cardiomyopathy in which the cardiac phenotype is associated with palmoplantar keratoderma and woolly hair. The hair phenotype is unique, characterized by congenital woolly, curly, rough, and light-colored scalp hair and sparse eyebrows. However, arrhythmias and severe cardiomyopathies are causes of severe life threatened ...