Dyschromatosis ptychotropica: an unusual pigmentary disorder in a boy with epileptic encephalopathy and progressive atrophy of the central nervous system-a novel entity?
The skin and the central nervous system are tissues of common ectodermal origin and share a close ontogenetic relationship. Genetic diseases primarily affecting both organ systems are regularly encountered in both dermatological and neurological settings. Here, we report on a boy with epileptic encephalopathy, severe intellectual disability, optic atrophy, and progressive cerebellar and supratentorial atrophy, reminiscent of progressive encephalopathy with edema and hypsarrythmia (PEHO) syndrome displaying a previously undescribed dyschromatosis in the form of progressive reticulate and mottled hyper- and hypopigmentation of the neck and the inguinal and axillary regions. We hypothesised that this combination of neurological and cutaneous findings has a common aetiology and represents a novel recognisable entity. Because of the unusual dermatological findings, we suggest the term dyschromatosis ptychotropica. Recognition of further cases may help elucidate the aetiology of this condition and give insight into the pathophysiology of both pigmentation disorders and epileptic encephalopathies.
Helbig
Ingo
I
Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Kiel Campus, Arnold-Heller-Str. 3, Haus 9, 24105, Kiel, Germany. ingo.helbig@uk-sh.de
Fölster-Holst
Regina
R
Brasch
Jochen
J
Hausser
Ingrid
I
van Baalen
Andreas
A
Muhle
Hiltrud
H
Alfke
Karsten
K
Caliebe
Almuth
A
Stephani
Ulrich
U
Happle
Rudolf
R
D001284:Atrophy / Q000150:complications / Q000473:pathology; D002531:Cerebellum / Q000473:pathology*; D003937:Diagnosis, Differential; D004827:Epilepsy / Q000150:complications*; D006801:Humans; D007223:Infant; D008297:Male; D020752:Neurocutaneous Syndromes / Q000150:complications* / Q000175:diagnosis*; D009896:Optic Atrophy / Q000150:complications / Q000473:pathology*; D010859:Pigmentation Disorders / Q000150:complications*
Dermatology. 1998;197(3):281-90
9812038
J Med Genet. 1993 Nov;30(11):932-6
8301648
Arch Dermatol. 1978 Aug;114(8):1150-7
677911
Clin Exp Dermatol. 1984 Sep;9(5):439-50
6386246
Epilepsia. 2007 Aug;48(8):1477-84
17484753
Semin Cutan Med Surg. 1997 Mar;16(1):81-5
9125769
J Dermatol. 2008 Oct;35(10):662-6
19017046
Am J Med Genet A. 2004 Mar 15;125A(3):261-6
14994234
J Med Genet. 1997 Aug;34(8):676-8
9279762
Br J Dermatol. 1980 Apr;102(4):474-6
6992839
Am J Med Genet A. 2005 Jun 1;135(2):195-9
15852476
Am J Med Genet. 1994 Jul 15;51(4):598-601
7943046
Am J Med Genet A. 2004 Apr 30;126A(3):290-2
15054844
Dermatology. 2005;211(2):149-51
16088163