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Abstract

1Volunteer physician at the outpatient clinic of dermatology at the University Hospital of Brasilia -University of Brasilia (HuB -UnB) -Brasilia (DF), Brazil. CASE REPORTThe patient is an eighteen-year-old female born by cesarean section with multiple congenital malformations in Sao Luis -MA. She had omphalocele repair as a neonate and presents learning difficulty. She is the second daughter of a nonconsanguineous couple with two children; the brother is healthy. Her mother reported three previous miscarriages. The patient displays body asymmetry, kyphoscoliosis, microcephaly, facial asymmetry, right-eyelid ptosis, left microphthalmia, low set ears, protruding ears and auricular cartilage thinning, thinning hair in the right frontoparietal area, dry and brittle hair. ( Figure 1A) Erythematous plaque was present in the upper and lower lip, extending into the oral cavity, with a papillomatous aspect. (Figure 1B) The patient presented only eight teeth, some conical, and lower alveolar bone hypotrophy. Auscultation of the heart revealed systolic heart murmurs 3 + / 6 + in the accessory aortic focus. On the abdomen, she presented median xiphopubic surgical scar. An evaluation of the extremities showed hand asymmetric brachydactyly, digital clubbing, syndactyly of 2nd and 3rd, 4th and 5th right toes, syndactyly of 2nd and 3rd left toes and ectrodactyly of the 4th right toe. (Figures 1C and 1d) She was mixed-race (pardo) and her skin had hypochromic atrophic papules that were confluent, forming dyschromic plaques with areas of brownish crusts and sagging skin on the face, neck, trunk, abdomen, upper and lower limbs following Blaschko lines. A skull radiograph showed a reduction of the craniofacial ratio with anteroposterior diameter, without signs of intracranial hypertension, orbital asymmetry, with reduction of the diameter of the left orbit, mandibular, maxillary and dental changes. A dorso-lumbar spine radiograph revealed left dorsolumbar convex scoliosis and dorsal kyphosis. Radiographs of the skeleton showed cross striations in the distal extremities of the bones of the forearms, femurs, tibias and fibulae. (Figure 2A) Ultrasonography of the kidneys and urinary tract showed mild right calyceal and renal pelvis dilatation. Histopathology of the skin showed epidermal hyperkeratosis, acanthosis and hypergranulosis. The dermis revealed vessel proliferation, mononuclear inflammatory cell infiltrate, areas of fibrosis and subcutaneous tissue extending to the epidermis, showing a marked reduction in dermal thickness. (Figure 2B) The lip lesion was papillomatous with areas of parakeratosis.

Cutaneous mosaicisms: concepts, patterns and classifications

“…15,16,17 Yellow-brown nodules are also characteristic, stemming from the herniation of subcutaneous tissue (Figure 10B). There can also be vegetative fibrovascular periorificial lesions (oral, perineal, vulvar), which can easily be mistaken for lesions stemming from the human papillomavirus (Figure 10B and 10C).…”

“…Other manifestations include adnexal alterations, like rarefaction and capillary fragility, nail deformities, asymmetrical skeletal, ocular, neurological, pulmonary, cardiovascular and dental anomalies 15,16,18 Classic radiological characteristics are striated osteopathy, shortening of limbs and syndactyly, including "lobster hand/foot" deformities (Figure 10D). The disease has been associated with PORCN gene mutations, located in the Xp11.23 locus , which codifies proteins of the endoplasmic reticulum associated with the secretion of Wnt proteins.…”

“…The disease has been associated with PORCN gene mutations, located in the Xp11.23 locus , which codifies proteins of the endoplasmic reticulum associated with the secretion of Wnt proteins. 16,17 …”