Preferred Label : Dermatoleukodystrophy;
Type : Other, mainly phenotypes with suspected mendelian basis;
Description : Matsuyama et al. (1978) described a 'new' disorder in a Japanese brother and sister,
the progeny of normal parents. They were born with thickened wrinkled skin and died
in the third year of life with a progressive cerebral disease characterized by generalized
mental and motor impairment. Postmortem neuropathologic studies showed a remarkable
leukodystrophy with multiple axonal spheroids as the outstanding feature. Ultrastructurally,
the spheroids contained granules resembling ceroid-lipofuscin bodies. Similar granules
were found in degenerating oligodendrocytes and in Schwann cells. The skin showed
hypercellularity and sclerosis. The ears, nose, hands and feet appeared disproportionately
large. Striking thickening, wrinkling and creasing of the skin was generalized and
gave the face the appearance of an aged person. *FIELD* RF 1. Matsuyama, H.; Watanabe,
I.; Mihm, M. C.; Richardson, E. P., Jr. : Dermatoleukodystrophy with neuroaxonal spheroids.
Arch. Neurol. 35: 329-336, 1978. *FIELD* CS Skin: Thickened wrinkled skin; Skin sclerosis;
Creased skin Neuro: Progressive cerebral disease; Mental retardation; Motor impairment;
Inheritance : Autosomal recessive;
Prefixed ID : 221790;
Origin ID : 221790;
UMLS CUI : C1857314;
Currated CISMeF NLP mapping
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
