Ann Dermatol.  2014 Apr;26(2):264-266. 10.5021/ad.2014.26.2.264.

Piebaldism with Neurofibromatosis Type I: A Familial Case

• Park SY
• Kim HJ
• Ahn SK

• KMID: 2171670
• DOI: http://doi.org/10.5021/ad.2014.26.2.264

Abstract

No abstract available.

MeSH Terms

Neurofibromatosis 1*
Piebaldism*

Figure

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  Fig. 1 The patient presented with depigmented patches and café-au-lait macules on the abdomen and extremities. (A, B) Hyperpigmented macules were present within the leukodermic patches. (C) He also had the characteristic white forelock. The arrow indicates the white forelock. (D) Multiple café-au-lait macules and freckling were noted in the axillary areas. The arrow indicates the café-au-lait macules, while the dotted lines indicate the freckling.

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  Fig. 2 Skin biopsies were obtained from a café-au-lait macule and a depigmented lesion. Basal hyperpigmentation was present in the café-au-lait macule (A) but not in the depigmented area (B). Fontana-Masson stain revealed increased melanin pigments in the basal layer of the specimen from the café-au-lait macule (C) but not the depigmented area specimen (D). (E) S-100-positive dendritic epidermal cells were detected in the pigmented macule. The S-100-positive cells are indicated with black arrows. (F) In the leukodermic area, some melanin pigments were deposited in the epidermis. (G) The pedigree shows family members affected with piebaldism or neurofibromatosis type 1 (NF-1). Members with only depigmented patches are marked with black boxes, while those who had both piebaldism and NF-1 are marked with deviant crease lines. The arrow indicates the patient (A, B: H&E, ×200; C, D: Fontana-Masson stain, ×200; E, F: immunohistochemical stain for S-100, ×400).

Reference

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