Document Detail

Phacomatosis pigmentokeratotica: a follow-up report documenting additional cutaneous and extracutaneous anomalies.
MedLine Citation:
PMID:  18304160     Owner:  NLM     Status:  MEDLINE    
This is a follow-up report on a boy with phacomatosis pigmentokeratotica. At the age of 10 years he had, in addition to a sebaceous nevus and a speckled lentiginous nevus, multiple lesions of a collagen nevus localized on the chin and in the lumbar area. On the left shoulder, a small telangiectatic spot was present within the area of the speckled lentiginous nevus. Moreover, hemiatrophy of the left-hand side of the body and hyperhidrosis of the left lumbar area were noted. At the age of 16, the lesions of his collagen nevus had considerably enlarged and showed an arrangement along Blaschko lines. Additional pinhead-sized vascular lesions were noted, with preponderance within the area of the speckled lentiginous nevus in the left scapular region and on his left leg. Moreover, the boy had developed severe arterial hypertension since the age of 13. Angiographic examination showed an aortic stenosis that reached from the aortic arch down to the origin of the renal arteries, necessitating a surgical intervention. From this follow-up report we conclude that phacomatosis pigmentokeratotica may be associated with other cutaneous abnormalities such as linear connective tissue nevus of the collagen type and multiple pinhead-sized angioma-like lesions superimposed on the speckled lentiginous nevus. The associated defects of the large vessels may belong to the component of Schimmelpenning syndrome representing one "half" of phacomatosis pigmentokeratotica, rather than being part of the speckled lentiginous syndrome that forms the other "half" of this twin-spot phenotype.
María del Carmen Boente; Raúl A Asial; Rudolf Happle
Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Pediatric dermatology     Volume:  25     ISSN:  1525-1470     ISO Abbreviation:  Pediatr Dermatol     Publication Date:    2008 Jan-Feb
Date Detail:
Created Date:  2008-02-28     Completed Date:  2008-04-07     Revised Date:  2009-03-03    
Medline Journal Info:
Nlm Unique ID:  8406799     Medline TA:  Pediatr Dermatol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  76-80     Citation Subset:  IM    
Department of Dermatology, Hospital del Niño Jesús, Tucumán, Argentina.
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MeSH Terms
Aortic Valve Stenosis / physiopathology,  radiography*
Disease Progression
Follow-Up Studies
Melanocytes / pathology
Melanosis / diagnosis*,  pathology
Neurocutaneous Syndromes / diagnosis*,  pathology
Severity of Illness Index
Vascular Malformations / physiopathology,  radiography*

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