J Korean Med Sci.  2012 Nov;27(11):1444-1446. 10.3346/jkms.2012.27.11.1444.

Phacomatosis Pigmentokeratotica without Extracutaneous Abnormalities: A Case Study Involving a Preterm Baby

• Oh GN
• Kim JY
• Choi JE
• Ahn HH
• Kye YC
• Seo SH

• KMID: 2157962
• DOI: http://doi.org/10.3346/jkms.2012.27.11.1444

Abstract

Phacomatosis pigmentokeratotica (PPK) is a rare syndrome defined by the association of an organoid nevus occasionally with sebaceous differentiation, a speckled lentiginous nevus, and other extracutaneous anomalies. A preterm male infant of only 830 g at 27 week gestational age had an organoid nevus showing sebaceous differentiation. Also, he had multiple speckled-lentiginous nevus. Correlating the observed clinical presentation with the histopathological findings, the diagnosis of PPK was established. There have been less than 10 cases of PPK without extracutaneous manifestation. We present an uncommon case of a preterm patient with PPK who had no extracutaneous abnormalities.

Keyword

Epidermal Nevus Syndromes; Phacomatosis Pigmentokeratotica; Preterm Baby

MeSH Terms

Diagnosis, Differential
Gestational Age
Humans
Infant, Newborn
Infant, Premature
Male
Nevus, Pigmented/*diagnosis/pathology
Skin Neoplasms/*diagnosis/pathology

Figure

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  Fig. 1 Gross view of skin lesion. (A, B) Pink grouped papules and plaques on the right side of the trunk. The organoid nevus with sebaceous differentiation, arranged according to Blaschko's lines. (C, D) By the age of one year, multiple tiny SLN were observed in the upper back.

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  Fig. 2 Histopathology of the skin lesion. (A) A skin biopsy from the right side of the cheek showed hyperkeratosis, moderate papillomatosis and acanthosis. There was a substantial increase in the number of mature sebaceous glands, hair follicles and eccrine glands in the epidermis (H&E stain, × 40). (B) At high power magnification, immature and inceased sebaceous glands were observed (H&E stain, × 100).

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