Visual Diagnosis: Connective Tissue Nevus And Osteopoikilosis

Maria Pereira, MD*2. Ana Leite, MD*3. Eduarda Osorio Ferreira, MD†4. Ana Filipa Duarte, MD‡5. Eckart Haneke, MD, PhD‡,§6. Osvaldo Correia, MD, PhD¶ 1. *Pediatrics Department and2. †Dermatology Department, Centro Hospitalar de Vila Nova de Gaia e Espinho, Vila Nova de Gaia, Portugal3. ‡Centro Dermatologia Epidermis, Instituto CUFP, Porto, Oporto, Portugal4. §Dermatology Department, Inselspital, University of Bern, Bern, Switzerland5. ¶Centro Dermatologia Epidermis, Instituto CUF Faculdade de Medicina, Universidade do Porto, Oporto, PortugalA 7-year-old boy presents to pediatric consultation with a 5-year history of progressively enlarging and multiplying asymptomatic skin lesions distributed over the right thigh, back, and abdomen. He has no other complaints or relevant medical history. Histopathologic analysis of a punch biopsy from the right thigh performed when the child was 3 years old was suggestive of a nevus lipomatodes superficialis.The maternal family history is notable for osteopoikilosis in members of the 3 previous generations, including his mother (Fig 1) and an aunt who has been evaluated for metastatic bone disease because of radiographic findings. There is no family history of similar skin lesions.Figure Right foot radiograph of the mother showing multiple small round hyperdense foci of osteopoikilosis (arrowheads).Physical examination reveals asymmetrically distributed papules and nodules, 10 to 18 mm in diameter, coalescing into plaques in the anterior surface of his right thigh, sacral region, and left lower abdomen. They have irregular contours, a yellow hue, a smooth surface, and a firm rubbery consistency (Fig 2).Figure 2. Right thigh anterior surface papular skin lesions in the child coalescing into plaques, with irregular contours, a yellow tone, a smooth surface, and a firm rubbery consistency.Histopathologic analysis of a punch biopsy sample from the right thigh at this age is again diagnosed as a nevus lipomatodes superficialis. However, further review of the same biopsy yields the features of a typical cutaneous tissue nevus (CTN) with an increase of elastic fibers and irregular arrangement of the collagen tissue fibers. The overlying epidermis is normal, and there is no inflammatory infiltrate and no increase …