Article

Cutis tricolor coexistent with cutis marmorata telangiectatica congenita: Phacomatosis achromico-melano-marmorata

Department of Dermatology, Hospital del Niño Jesús, Pasaje Bertrés 224, SM de Tucumán, Argentina.
European journal of dermatology: EJD (Impact Factor: 1.99). 07/2008; 18(4):394-6. DOI: 10.1684/ejd.2008.0458
Source: PubMed

ABSTRACT

An 8-year-old mentally retarded boy had paired segmental areas of hyper- and hypopigmentation on the left side of his body in association with cutis marmorata telangiectatica congenita (CMTC) involving the trunk and the limbs, with the exception of parts of his right arm. At the age of 4 years, an aneurysmatic nodular lesion developed in the angle of his right elbow, and subsequently two similar lesions emerged on his forehead and scalp. Moreover, a dysmorphic facial appearance, scoliosis, genu valgum, talipes planus and increased laxity of joints were noted. The coexistence of paired achromic and melanotic macules in the form of "cutis tricolor" with CMTC can be categorized as an unusual example of phacomatosis pigmentovascularis (PPV). This combination differs from all other types of PPV so far known, which is why we propose the new term "phacomatosis achromico-melano-marmorata". Future clinical research may show whether analogous "simple" twin-spot phenotypes in the form of "phacomatosis melanomarmorata" or "phacomatosis achromicomarmorata" do likewise exist.

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    ABSTRACT: Two unrelated girls presented with multiple disseminated, paired, small café-au-lait spots and hypopigmented macules, suggesting didymosis (twin spotting). The girls also had growth retardation, microcephaly, hypertelorism, triangular facies, and a 46,XY, r(15) karyotype. The term cutis tricolor parvimaculata has been proposed to describe a twin spot phenomenon characterized by small, paired hypochromic and hyperchromic macules on a background of normal intermediate-pigmented skin. It has been hypothesized that the underlying gene locus of this phenomenon is a hot spot for postzygotic recombination, resulting in multiple pigmentary twin spots. Future clinical research may show whether analogous "simple" twin-spot phenotypes in the form of cutis tricolor parvimaculata may be considered a further cutaneous sign of the ring chromosome 15 syndrome.
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  • No preview · Article · Mar 2009 · European journal of dermatology: EJD
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    ABSTRACT: The term cutis tricolor describes the combination of congenital hyper- and hypo-pigmented skin lesions in close proximity to each other in a background of normal complexion. This phenomenon has been reported so far: (i) as pure cutaneous trait, (ii) as a part of a complex malformation syndrome (Ruggieri-Happle syndrome--RHS), (iii) as a distinct type (cutis tricolor parvimaculata); (iv) in association with other (e. g., vascular) skin disturbances. The aim of this study was to define the spectrum of neurological abnormalities in cutis tricolor. A retrospective and prospective 14-year study of clinical, electroencephalographic (EEG), neuroradiological (MRI), cytogenetic and ZFHX1B gene studies of 14 individuals (8 M, 6 F; aged 2-28 years) with cutis tricolor (4 pure cutaneous; 10 syndromic) was undertaken. Neurological involvement was recorded in 71.4% (10/14) of the patients [100% (10/10) in RHS and null (0/4) in cases with isolated skin manifestations] and included psychomotor delay (n=8), seizures (n=9), EEG abnormalities (n=6), a behavioural phenotype (n=4), non-specific brain abnormalities (n=6). Genetic analyses excluded ZFHX1B mutations and revealed a 19qter deletion (n=1). Even though we could not exclude the ascertainment and referral biases, we concluded that cutis tricolor may be a marker of underlying neurological involvement particularly in subjects with a syndromic (RHS) phenotype.
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