Pigmentary mosaicism following the lines of Blaschko in a girl with a double aneuploidy mosaicism: (47,XX,+7/45,X)

Abstract

We report on a 6-year-old girl with linear streaks of apparent hypopigmentation and hyperpigmentation following the Blaschko lines, growth retardation, bupthalmos of the left eye, and mild mental retardation. She had a 45,X karyotype in lymphocytes. In cultured fibroblasts a double aneuploidy mosaicism was detected, consisting of a cell line with trisomy for chromosome 7 and a cell line with monosomy for the X-chromosome and no cell line with a normal karyotype. Cutis tricolor or three levels of pigmentation in different skin areas suggested presence of a third, probably normal cell line. Double aneuploidy mosaicism of a cell line with monosomy X and a cell line with trisomy of an autosome is a rare finding. The combination of monosomy X with trisomy of chromosomes 8, 10, 13, 18, and 21 has been reported, but not the combination with trisomy 7. In the 45,X cell line, microsatellite analysis showed loss of the maternal X-chromosome, and presence of a maternal and paternal chromosome 7. The 47,XX,þ7 cell line showed a paternal and a maternal X-chromosome, and a paternal and two identical maternal chromosomes 7. Mechanisms that might explain this double aneuploidy mosaicism are discussed.

Cutis tricolor: a literature review and report of five new cases

“…By literature review (2)(3)(4)(5)(6)(7)(8)(9)(10)(11)(12)(13)(14)(15)(16)(17)(18)(19)(20) and personal experience ( Tables 1,2) we have recorded 40 cases so far with the following demographic, clinical, laboratory and imaging features and natural history.…”

“…The existing literature revealed 19 previous studies (2)(3)(4)(5)(6)(7)(8)(9)(10)(11)(12)(13)(14)(15)(16)(17)(18)(19)(20) for a total number of 35 cases with purely cutaneous traits (3,5,7,11,17,18) and with a combination of paired skin phenomena of the cutis tricolor type and associated cutaneous/ systemic/neurological manifestations (2)(3)(4)6,(8)(9)(10)(11)(12)(13)(14)(15)(16)(17)(18)(19)(20)(21)(22)(23).…”

“…The radiographic features in the syndromic patients so far analysed (2,3,6,8,(11)(12)(13)(14)16,18,19), include [reviewed in (14)]: a small skull (not microcephalic) with prognathism; the pituitary fossa can be "J" shaped and abnormally shaped (Figure 2A) with implanted teeth sprouts and numerous dental cysts; absent posterior arch of the atlas; obtuse angle of the mandible; scoliosis of different degrees and location (with additional lordosis and kyphosis: the abnormal curvature of the spine can be dystrophic in appearance, right-sided lower thoracic (T10-12) and upper lumbar (L1-3) with asymmetric peduncles and sloping ribs (n=6) or left-and right-sided upper thoracic (T4-T7) and lower lumbar (L1-L4) ( Figure 2B); metaphyseal osteosclerosis of the femurs; mild to moderate bowing of long bones ( Figure 2C). There is also clinodactyly of the fifth fingers.…”

“…The term cutis tricolor describes the combination of congenital hyper-and hypopigmented lesions (in the form of macules, patches or streaks), in close proximity to each other, in a background of normal skin (1)(2)(3)(4)(5)(6)(7)(8)(9)(10)(11)(12)(13)(14)(15)(16)(17)(18)(19)(20). This phenomenon has been reported so far either (18): (I) as an purely cutaneous trait (3,5,7,11,17,18); (II) as a part of a complex malformation phenotype (Ruggieri-Happle syndrome, RHS) (18,(21)(22)(23) including distinct facial (a peculiar facial phenotype consisting in coarse, asymmetric and later in adolescence elongated face, thick and brushy eyebrows, hypertelorism, deep nasal bridge with large bulbous nose and anteverted nostrils, low-set ears, large phyltrum), eye (congenital cataract), skeletal (small skull, dystrophic vertebrae, and mildly bowed long bones), nervous system [corpus callosum anomalies, white matter abnormalities (i.e., delayed myelination), holoprosencephaly and cerebellar anomalies] and systemic abnormalities (2,3,6,8,(11)(12)(13)(14)16,18,19); (III) as a distinct type with mult...…”

“…This phenomenon has been reported so far either (18): (I) as an purely cutaneous trait (3,5,7,11,17,18); (II) as a part of a complex malformation phenotype (Ruggieri-Happle syndrome, RHS) (18,(21)(22)(23) including distinct facial (a peculiar facial phenotype consisting in coarse, asymmetric and later in adolescence elongated face, thick and brushy eyebrows, hypertelorism, deep nasal bridge with large bulbous nose and anteverted nostrils, low-set ears, large phyltrum), eye (congenital cataract), skeletal (small skull, dystrophic vertebrae, and mildly bowed long bones), nervous system [corpus callosum anomalies, white matter abnormalities (i.e., delayed myelination), holoprosencephaly and cerebellar anomalies] and systemic abnormalities (2,3,6,8,(11)(12)(13)(14)16,18,19); (III) as a distinct type with multiple, disseminated smaller skin macules (cutis tricolor parvimaculata) (9,15,18) [different from the autosomal dominant congenital hypo-and hyperpigmented macules (Westerhof syndrome; MIM # 154000)]; and (IV) in association with other skin disturbances [e.g., cutis marmorata telangectasica congenita (phacomatosis achromico-melano-marmorata)] or in the context of other skin disorders (e.g., ataxia-telangiectasia and phacomatosis pigmentovascularis, PPV) or neurocutaneous phenotypes (4,10,13,20).…”