Ann Dermatol.  2017 Feb;29(1):91-94. 10.5021/ad.2017.29.1.91.

Almost Unilateral Focal Dermal Hypoplasia

Affiliations
  • 1Department of Dermatology, Wonju Severance Christian Hospital, Yonsei University Wonju College of Medicine, Wonju, Korea. ahnsk@yonsei.ac.kr

Abstract

Focal dermal hypoplasia, caused by mutations in PORCN, is an X-linked ectodermal dysplasia, also known as Goltz syndrome. Only seven cases of unilateral or almost unilateral focal dermal hypoplasia have been reported in the English literature and there have been no previously reported cases in the Republic of Korea. A 19-year-old female presented with scalp defects, skin lesions on the right leg and the right trunk, and syndactyly of the right fourth and fifth toes. Cutaneous examination revealed multiple atrophic plaques and a brown and yellow mass with fat herniation and telangiectasia that was mostly located on the lower right leg. She had syndactyly on the right foot and the scalp lesion appeared to be an atrophic, membranous, fibrotic alopecic scar. A biopsy of the calf revealed upper dermal extension of fat cells, dermal atrophy, and loss of dermal collagen. A diagnosis of almost unilateral focal dermal hypoplasia was made on the basis of physical and histologic findings. Henceforth, the patient was referred to a plastic surgeon and an orthopedics department to repair her syndactyly.

Keyword

Ectodermal dysplasia; Focal dermal hypoplasia; Syndactyly

MeSH Terms

Adipocytes
Atrophy
Biopsy
Cicatrix
Collagen
Diagnosis
Ectodermal Dysplasia
Female
Focal Dermal Hypoplasia*
Foot
Humans
Leg
Orthopedics
Plastics
Republic of Korea
Scalp
Skin
Syndactyly
Telangiectasis
Toes
Young Adult
Collagen
Plastics

Figure

  • Fig. 1 (A) Atrophic and fibrotic alopecic patch on the scalp. (B) Irregularly thickened epidermis and atrophic dermis with upward extending subcutaneous tissue. Mild fibrotic change and loss of periadnexal structures (H&E, ×40).

  • Fig. 2 (A) Irregular shaped large atrophic patch with telangiectasia on the right side of the abdomen. (B) Multiple and various sized protruding yellowish masses and atrophic patches mostly on the right side of the leg. Only some of linear streaks are seen on the left side (inset: protruding mass with fat herniation and deposition). (C) Syndactyly of the fourth and fifth toes on the right root.

  • Fig. 3 Marked thinning of the dermis and extension of subcutaneous fat toward the epidermis (H&E, ×40).


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