Phacomatosis Pigmentokeratotica: Report of New Cases and Further Delineation of the Syndrome | Congenital Defects | JAMA Dermatology | JAMA Network
[Skip to Content]
Access to paid content on this site is currently suspended due to excessive activity being detected from your IP address Please contact the publisher to request reinstatement.
[Skip to Content Landing]
March 1998

Phacomatosis Pigmentokeratotica: Report of New Cases and Further Delineation of the Syndrome

Author Affiliations

From the Center of Cutaneous Inherited Diseases, Institute of Dermatological Science, Istituto di Ricovero e Cura a Carattere Scientifico Policlinico, (Drs Tadini, Restano, and Cambiaghi); the Department of Neurology, S Raffaele Hospital, (Dr Marchettini); and the Department of Neurophysiopathology, Institui Clinici di Perfezionamento (Dr Mastrangelo), Milan, Italy; the Department of Dermatology, Hospital de Cruces, Bilbao (Dr Gonzáles-Pérez) and the Department of Dermatology, Hospital Sant Joan de Déu, Barcelona (Drs Gonzáles-Enseñat and Vincente-Villa), Spain; and the Department of Dermatology, University of Marburg, Marburg, Germany (Dr Happle).

Arch Dermatol. 1998;134(3):333-337. doi:10.1001/archderm.134.3.333

Background  The epidermal nevus syndromes include different diseases that have the common feature of mosaicism. One of these has been recently identified and named phacomatosis pigmentokeratotica, in analogy to phacomatosis pigmentovascularis. It is characterized by an organoid nevus with sebaceous differentiation, a speckled-lentiginous nevus, and other associated anomalies. It has been hypothesized that this syndrome is caused by a particular genetic mechanism known as the twin-spot phenomenon.

Observations  We describe 3 patients manifesting an association of organoid nevus showing sebaceous differentiation and speckled-lentiginous nevus with associated anomalies and update the neurologic findings of a previously described patient. Hemiatrophy seems to be a common finding in all cases; hyperpathia, dysesthesia, and hyperhidrosis, as well as other neurologic defects, may be present.

Conclusions  The findings in these patients allowed us to better delineate this syndrome. Further studies are needed to elucidate the underlying genetic defect. At present, however, the hypothesis that best explains this phenotype is twin spotting. Clinical recognition of this syndrome can contribute to the classification of the epidermal nevus syndromes and give insight into unusual genetic mechanisms occurring in humans.