This 9-month-old boy presented at birth with erythematous atrophic macules and papules in a Blaschko line pattern on the trunk, erythematous papules on the face, and erythematous plaques involving the popliteal fossa and elbows. He was also noted to have syndactyly of several digits of the left hand. Erythematous papules are present on the cheeks, the right popliteal fossa, and elbow. There are Blaschkoid, atrophic lesions involving the right trunk and lower extremities and papillomatous lesions involving the heels and scalp. A hypoplastic thumb, syndactyly of the 2nd and 3rd as well as 4th and 5th digits of the left hand, and hypoplastic nails are also observed. Note specifically the linear crease along the nasal alar rim. A karyotype performed several weeks after birth was normal. The patient has had a normal ophthalmologic exam and head MRI. Punch biopsy, right leg: The epidermis is unremarkable. Nests of adipose tissue are noted high in the dermis. Goltz syndrome or Focal Dermal Hypoplasia (FDH) was first described by Dr. Robert Goltz in 1962. Since that time, there have been over 200 cases described in the literature. FDH is an inherited disorder seen predominantly in females, although about 10-20 percent of reported cases have occurred in males. The cutaneous findings are characterized by linear or Blaschkoid atrophic or papular lesions on the trunk and extremities which on histology reveal areas of “fat herniation” through a hypoplastic dermis. It has been suggested that the presence of adipose tissue in the dermis may represent a fat hamartoma. A recent study finding adipose cells surrounding the dermal vessels in these patients would favor this hypothesis. Another characteristic cutaneous finding is the presence of papillomatous lesions that involve mucocutaneous junctions and which histologically resemble angiofibromas. In addition, alopecia and dystrophic or hypoplastic nails and teeth can also be seen. A salient feature of this disease is the presence of syndactyly involving the digits, also referred to as a “lobster claw” deformity. Other musculoskeletal findings include asymmetric limb shortening and hypoplastic digits. Hand involvement is found in the majority of these patients. An associated, but not pathognomonic, radiologic finding is osteopathia striata, manifest as hyperdense striations in the metaphyses of long bones. Patients may also present with otic, ophthalmic, neurologic, gastrointestinal or genitourinary involvement. A classic clinical feature described in association with Goltz syndrome patients is the linear crease along the nasal alar rim.
The genetic defect underlying Goltz syndrome remains to be elucidated, but the literature to date supports the hypothesis that FDH is an X-linked dominant disorder with male lethality. The majority of cases have a normal karyotype and are though to result from sporadic mutations. Over 30 male cases have been reported to date. These cases are felt to arise from post-zygotic mutations.
Description
symmetric linear red macules and soft spongy plaques
