Congenital sensory neuropathy with anhidrosis.
A 6-year-old girl had congenital sensory neuropathy with anhidrosis (CSNA), one of the five variants of a group of very rare genetic disorders of the peripheral nervous system--hereditary sensory neuropathies (HSN). Clinical, laboratory, and physiopathologic aspects are discussed. Dermatologic findings of anhidrosis and self-mutilation suggest the diagnosis.
Domingues
J C
JC
Department of Dermatology, University Hospital, Coimbra, Portugal.
Moreno
A
A
Mariano
A
A
Tellechea
O
O
Correia
C
C
Gonçalves
O
O
Baptista
A P
AP
D002648:Child; D002921:Cicatrix / Q000473:pathology; D005260:Female; D009477:Hereditary Sensory and Autonomic Neuropathies / Q000473:pathology*; D006801:Humans; D017495:Hyperpigmentation / Q000473:pathology; D007007:Hypohidrosis / Q000151:congenital* / Q000473:pathology*; D000699:Pain Insensitivity, Congenital / Q000473:pathology; D012652:Self Mutilation / Q000473:pathology; D012867:Skin / Q000293:injuries