Zebra-like Hyperpigmentation in an Infant With Multiple Congenital Defects

Alimurung, Fortunata M.

doi:10.1001/archderm.1979.04010070054026

Cited by 28 publications

(11 citation statements)

References 19 publications

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“…In 1988 Kalter et al (1) coined the term “linear and whorled nevoid hypermelanosis” (LWNH) for a condition characterized by hyperpigmented reticulate streaks and whorls following the lines of Blaschko, without a preceding inflammatory event or palpable lesion. They considered LWNH to be similar to previously described cases of “reticulate hyperpigmentation distributed in a zosteriform fashion” (2) and “zebra‐like hyperpigmentation in whorls and streaks” (3). Later, “progressive cribriform and zosteriform hyperpigmentation” with delayed onset and limitation to a single body area was assigned to LWNH as well (4).…”

supporting

confidence: 60%

Postnatal Confirmation of Prenatally Diagnosed Trisomy 20 Mosaicism in a Patient with Linear and Whorled Nevoid Hypermelanosis

Hartmann¹,

Hofmann²,

Hoehn

et al. 2004

Pediatric Dermatology

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Linear and whorled nevoid hypermelanosis (LWNH) is characterized by hyperpigmented reticulate macules in a Blaschko linear arrangement without atrophy or preceding inflammation. Underlying chromosomal mosaicism was often assumed, but has been verified in only a few published cases. We report a 7-year-old boy with LWNH associated with congenital ventricular septal defect and psychomotor retardation. Prenatal chromosomal analysis of amniocytes revealed trisomy 20 mosaicism, which was not confirmed in peripheral blood lymphocytes after birth. Histologic sections of skin biopsy specimens taken at age 6 years showed hyperpigmentation of the basal epidermal layer with prominent melanocytes and isolated melanophages in the upper dermis. Cytogenetic analysis of cultured skin fibroblasts revealed an extra chromosome 20 in 5 of the 30 metaphases studied (17%). Mosaic trisomy 20 is one of the most common autosomal mosaicisms identified in amniocytes and is, as a rule, compatible with normal pregnancy outcome. In postnatal analysis of peripheral blood lymphocytes, an extra chromosome 20 could never be detected. However, when confirmed in skin fibroblasts, trisomy 20 mosaicism may be associated with systemic anomalies. The present case shows for the first time an association of LWNH with trisomy 20 mosaicism and emphasizes the importance of analyzing skin fibroblasts in cases of prenatally diagnosed trisomy 20.

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supporting

confidence: 60%

Postnatal Confirmation of Prenatally Diagnosed Trisomy 20 Mosaicism in a Patient with Linear and Whorled Nevoid Hypermelanosis

Hartmann¹,

Hofmann²,

Hoehn

et al. 2004

Pediatric Dermatology

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“…Since its first description, only a few cases of LWNH have been reported 3,7–11 . From a review of the literature, however, several reported cases with similar findings, but described under different names, have been found; these include reticulate hyperpigmentation distributed in a zosteriform fashion, 12 reticulate hyperpigmentation of Iijima, Naito and Uyeno, 13 zosteriform lentiginous nevus, 14 and zebra‐like hyperpigmentation 15 …”

Section: Discussionmentioning

confidence: 99%

Linear and whorled nevoid hypermelanosis associated with developmental delay and generalized convulsions

Alrobaee

Alsaif

2004

Int J Dermatology

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A 2‐year‐old Saudi boy was seen in our dermatology clinic with symmetrical, brown, linear macules over the legs, trunk, and arms (Figs 1–3). He was a product of a full‐term vaginal delivery following an uneventful first pregnancy in a 22‐year‐old mother. The birth weight was 2.3 kg. The hyperpigmented macules followed the lines of Blaschko and were noticed a few months after birth; they had enlarged with body growth until the age of 18 months. There was no family history of a similar condition and the boy's parents were unrelated. No blistering or inflammatory changes preceded the hyperpigmentation. The palms, soles, nails, scalp, mucous membranes, and teeth were normal. In addition to the hyperpigmented macules, the patient started to have generalized convulsions at the age of 2 months. 1 Linear hyperpigmented macules following the lines of Blaschko 2 Close up view of the hyperpigmented macules 3 Trunk: Hyperpigmented macules in whorled distribution Physical examination revealed delayed developmental milestones, microphthalmia, depressed nose, and high arched palate with no other abnormalities. Blood tests were normal. Magnetic resonance imaging of the brain showed changes suggestive of a demyelinating process at the parieto‐occipital white matter. Echocardiography revealed an atrial septal defect. Electroretinography (ERG), visual evoked potentials (VEP), and auditory evoked potentials (AEP) were normal. Electroencephalogram (EEG) showed multifocal epileptic discharge in the posterior region. A punch skin biopsy taken from the hyperpigmented lesions showed an increase in the melanin content of the basal layer with no incontinence of pigment or melanophages in the dermis.

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“…488 The term 'patterned hypermelanosis' is not applicable to well-defined entities such as incontinentia pigmenti and the reticulate acral pigmentations of Kitamura and of Dowling and Degos (see p. 295). 463,484,487 [489][490][491] Histopathology In all cases there has been an increase in melanin pigment in the basal layer.…”

Section: Patterned Hypermelanosismentioning

confidence: 98%

Disorders of pigmentation

Weedon

2010

Weedon's Skin Pathology

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Zebra-like Hyperpigmentation in an Infant With Multiple Congenital Defects

Cited by 28 publications

References 19 publications

Postnatal Confirmation of Prenatally Diagnosed Trisomy 20 Mosaicism in a Patient with Linear and Whorled Nevoid Hypermelanosis

Postnatal Confirmation of Prenatally Diagnosed Trisomy 20 Mosaicism in a Patient with Linear and Whorled Nevoid Hypermelanosis

Linear and whorled nevoid hypermelanosis associated with developmental delay and generalized convulsions

Disorders of pigmentation

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