Total Hemi-overgrowth in Pigmentary Mosaicism of the (Hypomelanosis of) Ito Type

Pavone, Vito; Signorelli, Salvatore Santo; Praticò, Andrea D.; Corsello, Giovanni; Savasta, Salvatore; Falsaperla, Raffaele; Pavone, Piero; Sessa, Giuseppe; Ruggieri, Martino

doi:10.1097/md.0000000000002705

Cited by 43 publications

(59 citation statements)

References 29 publications

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“…It is often associated with chromosomal pathology and presents by the age of 2 years. Mosaic hypopigmentation may be associated with neurological, ophthalmological and musculoskeletal abnormalities . Intensive investigation is not required as most systemic co‐morbidities can be identified through physical examination and regular follow‐up.…”

Section: Answermentioning

confidence: 99%

Infant with hypopigmented streaks

2019

J Paediatrics Child Health

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Section: Answermentioning

confidence: 99%

Infant with hypopigmented streaks

2019

J Paediatrics Child Health

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“…It is the archetypical pattern followed by the pigmentary lines, ("S" and "V" shaped) whorls, and streaks observed in incontinentia pigmenti (IP) of the Bloch-Sulzberger type as well as in most cases of mosaic hypopigmentation of the Ito type (hypomelanosis of Ito). 48,[56][57][58][59][60][61] The skin patterning, often, especially when it is systematized along these lines, can be reflected in other organs, 48,57,58 or can be associated to increased, 59 (or decreased) growth in a part of the body. In some sebaceous nevi, the narrow bands may by chance be contiguous in some regions giving rise to a large plaque of nonlinear appearance especially on the scalp.…”

Section: Pathogenesis Of Blaschko's Linesmentioning

confidence: 99%

Archetypical Patterns of Skin Manifestations in Neurocutaneous Disorders

et al. 2018

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The distribution of the cutaneous manifestations in neurocutaneous disorders is not casual; rather, it reflects predetermined patterns of skin arrangements, due to the action of the underlying genes, proteins, and/or metabolic pathways on the skin texture and appendages. These patterns of distribution are pathognomonic for each neurocutaneous disorder and can occur either in specific areas of the body (e.g., the forehead, the face, the trunk, the nails, one limb or one of more segments of the body) or following specific lines (e.g., lines of Blaschko) or taking peculiar shapes (e.g., leaf-like, ovoid, whorled, “S” or “V” shaped). These patterns of abnormal skin often mirror similar phenomena in extra-cutaneous organs/tissues, principally in the central nervous system but also in the eye, bone, heart/vessels, lung, kidney, and gut. A classification system, including several patterns of cutaneous arrangements (archetypical patterns) was proposed by the German dermatologist Rudolf Happle in 1993 and later expanded until 2014: this classification, originally meant to broadly explain (genetic and nongenetic) mosaic skin disorders and phenomena, was later expanded to explain the patterns of distribution of skin manifestations in some autosomal dominant skin disorders (genodermatoses). Currently, we recognize: (1) six archetypical patterns, including type 1 “along the lines of Blaschko” in (a) narrow or (b) large bands, type 2 “checkerboard” pattern, type 3 “phylloid” pattern, type 4 “patchy pattern without midline separation,” type 5 “lateralization” pattern, and type 6 “sash-like” pattern; (2) three less well-defined (so far unclassifiable) archetypical patterns, including (a) a diffuse hypopigmentation of the trunk versus smaller areas of normal skin on a unilateral aspect of the thorax and a segmental hyperpigmentation involving both arms and the trunk, (b) an “atypical” pattern along the Blaschko's lines, (c) the “mesotropic facial pattern,” and (iii) segmental manifestations of monogenic disorders, including (type 1) segmental areas of skin affected with the typical manifestations of a disease associated to otherwise unaffected skin and (type 2) segmental areas of skin affected with a very pronounced degree of the typical skin manifestations of a disease. In this article we review the existing literature on the early history of Blaschko's lines, the presentation of the (well-defined and unclassified) archetypical patterns and the segmental manifestations of monogenic disorders tailoring these concepts to neurocutaneous disorders.

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“…147 Affected individuals are reported to also have partial or total body hemi-overgrowth, which often causes moderate-to-severe complications. 16 Hypertrophic or hypotrophic areas are usually seen on the same side as the hypomelanotic skin. Unilateral hypertrophy, also referred to as hemi-overgrowth (HOG), occurs in 7% of patients and is associated with a higher prevalence of extracutaneous manifestations.…”

Section: Growth Limb and Skeletal Abnormalitiesmentioning

confidence: 99%

“…12 Scalp, palms, soles, or mucosae are usually spared. The skin patterns may appear as an isolated skin disorder (a pure cutaneous trait) (pigmentary mosaicism or linear hypomelanosis [of the Ito type]) 13,14 or as a complex malformation syndrome in association with extracutaneous manifestations, 15,16 including central nervous system (CNS) or musculoskeletal alterations (HI). [16][17][18][19] McKusick's catalog of inherited diseases lists HI as an autosomal dominant disorder, although evidence for this mode of inheritance, or indeed for any genetic etiology, is inconclusive.…”

Section: Introductionmentioning

confidence: 99%

“…The skin patterns may appear as an isolated skin disorder (a pure cutaneous trait) (pigmentary mosaicism or linear hypomelanosis [of the Ito type]) 13,14 or as a complex malformation syndrome in association with extracutaneous manifestations, 15,16 including central nervous system (CNS) or musculoskeletal alterations (HI). [16][17][18][19] McKusick's catalog of inherited diseases lists HI as an autosomal dominant disorder, although evidence for this mode of inheritance, or indeed for any genetic etiology, is inconclusive. 20,21 Current theory suggests that HI is a nonspecific manifestation of chromosomal mosaicism that can occur in almost any autosome or sex chromosome and can also be caused by a non-mosaic balanced X-autosome translocation; 22,23 genetic changes, however, are not present in all affected individuals.…”

Section: Introductionmentioning

confidence: 99%

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Hypomelanosis of Ito

et al. 2018

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Hypomelanosis of Ito (HI) is a congenital neurocutaneous syndrome presenting in the first year of life. It was first described by Ito in 1952 as a purely cutaneous disease presenting with skin hypopigmentation. Several extracutaneous manifestations were later described, and it is now known that several organs can be involved (including brain, muscle, bone, heart, eye, kidney, and teeth) and that the prognosis is strictly related to the number of involved organs. The incidence and prevalence of this syndrome have been estimated to range between 1 in 7,540 births and 1 in 82,000; the disorder affects both the sexes, occurs in all races, and is characterized by depigmentation of the skin along the lines of Blaschko on the trunk and extremities in whorled and linear streaks and patterns. The pathogenesis is unknown, but it is likely to be multifactorial. Several models of inheritance have been proposed but not proved; genetic mosaicism is nowadays the most likely explanation for its inheritance. The differential diagnosis comprises other disorders with hypopigmentation following the lines of Blaschko and thus includes the atrophic/hypopigmented (fourth) stage manifestations of incontinentia pigmenti of the Bloch–Sulzberger type, tuberous sclerosis complex, vitiligo, and skin fungal infections. Consensus recommendations for the screening of associated extracutaneous conditions do not exist and management is symptomatic, but a regular evaluation of somatic growth, neurodevelopment, endocrine status, eyes, and teeth should be performed, and the screening of renal function is also advisable. HI still represents a challenging disorder for the child neurologist and a controversial issue in the medical literature. Awareness of this disorder could allow an early diagnosis and appropriate genetic counseling and screening.

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Total Hemi-overgrowth in Pigmentary Mosaicism of the (Hypomelanosis of) Ito Type

Cited by 43 publications

References 29 publications

Infant with hypopigmented streaks

Infant with hypopigmented streaks

Archetypical Patterns of Skin Manifestations in Neurocutaneous Disorders

Hypomelanosis of Ito

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