Pigmentary patterning as a clinical clue of genetic mosaicism

Paller, Amy S.

doi:10.1001/archderm.132.10.1234

Cited by 7 publications

(2 citation statements)

References 14 publications

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“…However, in both children the skin anomalies were not typically distributed along the lines of Blaschko, histologically no incontinent pigment was seen in the dermis and, clinically, in both cases there were no preceding eruptive phases [1, 3±5, 13]. In addition, both cases were dissimilar from the McCune-Albright syndrome, a sporadic disorder manifesting with irregular and asymmetric brown pigmentary macules, most commonly seen over sacrum, buttocks or upper spine in association with polyostotic ®brous dysplasia and precocious puberty without additional hypopigmented areas [9,15,17]. Acquired Blasckolinear dermatoses, such as lichen striatus, linear psoriasis or linear lichen planus [1,3,13,17,20] were also ruled out because the skin abnormalities in both children were congenital, not preceded by erythematous and/or eruptive phases.…”

Section: Discussionmentioning

confidence: 99%

Cutis tricolor: congenital hyper- and hypopigmented lesions in a background of normal skin with and without associated systemic features: further expansion of the phenotype

Ruggieri

2000

Eur J Pediatr

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The term cutis tricolor describes the uncommon co-existence of congenital hyper-and hypopigmented macules, in close proximity to each other, in a background of normal skin so far seen in a 17-year-old patient with various other congenital defects. The suggested explanation for this phenomenon is allelic twin spotting. We report on two boys, aged 6 and 11 years, with an unusual combination of three dierent degrees of pigmentation, one of whom had in addition, psychomotor delay, dysmorphic features, musculoskeletal abnormalities and subcortical and periventricular white matter high signal lesions on brain neuroimaging. In both cases a search for mosaicism in peripheral blood lymphocytes and cultured ®broblasts was negative. In contrast to the previously reported case, the two children had large streaks or patches of hyper-and hypopigmented skin lesions, in close proximity to each other, involving large areas of the body. The rest of the skin had a normal intermediate pigmentation.Conclusion This combination of three degrees of pigmentation in association with systemic defects in one child and the lack of such association in the other con®rms and further expands the clinical phenotype of cutis tricolor.

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Section: Discussionmentioning

confidence: 99%

Cutis tricolor: congenital hyper- and hypopigmented lesions in a background of normal skin with and without associated systemic features: further expansion of the phenotype

Ruggieri

2000

Eur J Pediatr

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“…Hyperpigmented whorls or streaks on the neck may appear according to the lines of Blaschko [4, 5]. This type of pigmentary patterning gives a clue to genetic mosaicism [6]. Different entities lead to reticulate and mottled pigmentation on the neck and classification criteria are heterogeneous regarding important practical points such as inheritance pattern, distribution and additional clinical findings (table 1).…”

Section: Introductionmentioning

confidence: 99%

Genodermatosis with Reticulate, Patchy and Mottled Pigmentation of the Neck – A Clue to Rare Dermatologic Disorders

Itin

Lautenschläger

1998

Dermatology

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Reticulate pigmentation of the neck is a common finding in numerous genodermatoses and acquired diseases. As the neck is readily accessible to medical inspection, it may serve as a diagnostic window for various dermatoses. Several entities out of the spectrum of ectodermal dysplasia present with reticulate or mottled pigmentation on the upper trunk and neck. The most impressive genodermatoses with punctate and reticulate pigmentation affecting the neck are the Naegeli-Franceschetti-Jadassohn syndrome, dermatopathia pigmentosa reticularis and dyskeratosis congenita. Reticulate pigmented anomaly of the flexures and lentiginosis, disorders of cornification and related entities are further genodermatoses which may involve the neck. In our review we have integrated inherited dermatoses which do not obligatorily affect the neck but have been well documented to do so. Our work should give the clinician a checklist on genodermatoses which may produce reticulate and mottled pigmentation on the neck.

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Patterned Pigmentation in Children

Treat

2010

Pediatric Clinics of North America

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Pigmentary patterning as a clinical clue of genetic mosaicism

Cited by 7 publications

References 14 publications

Cutis tricolor: congenital hyper- and hypopigmented lesions in a background of normal skin with and without associated systemic features: further expansion of the phenotype

Cutis tricolor: congenital hyper- and hypopigmented lesions in a background of normal skin with and without associated systemic features: further expansion of the phenotype

Genodermatosis with Reticulate, Patchy and Mottled Pigmentation of the Neck – A Clue to Rare Dermatologic Disorders

Patterned Pigmentation in Children

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