Focal dermal hypoplasia syndrome. A review of the literature and report of two cases

Focal Dermal Hypoplasia with Exuberant Fat Herniations and Skeletal Deformities

“…Therefore it was considered of great value for our FDH diagnosis (17). Internal organ abnormalities are only present in 10% of occurrences (18); and in agreement, we did not observe any defects in our patient's internal organs. Her intelligence level was considered normal for her age, which concurs with the fact that only 15% of all FDH patients reported so far have been described as having mental retardation (14).…”

Revisiting histopathologic findings in Goltz syndrome

“…). Biopsy of linear lesions may or may not show adipocytes in the papillary dermis, but all three of our cases showed a pattern of increased papillary dermal capillaries, dermal attenuation and superficial adipocytes, findings previously described by other authors . The abnormal arrangement of dermal structures and adipocytes is consistent with the role of PORCN in WNT signaling, which is critical for proper ectodermal development.…”

“…This series of Goltz syndrome emphasizes a pattern of histopathologic change that was originally noted by Dr. Goltz but has been underemphasized . Replacement of the dermis with adipose tissue was seen only in one of three biopsies from Case 1 alone.…”

Pseudotail Associated with Spinal Dysraphism

“…It is usually associated with ocular, oral, dental and skeletal defects in addition to cutaneous abnormalities. A localized her niation of subcutaneous fat through attenu ated dermis occurs; sometimes this cannot be distinguished from naevus superficialis lipomatosus [12], In our case, mature fat ty tissue was increased not only in the caudal appendage but also from the spinal canal to the skin. Such deep invasion of fatty tissue is not demonstrated in naevus superficialis lipomatosus and Goltz's syndrome.…”