Goltz’s Syndrome: Focal Dermal Dysplasia Syndrome (Focal Dermal Hypoplasia)

Abstract

The case of a Japanese girl who had deformities of bone and joints on the right side, and bilateral exanthemas and tooth anomaly (hypoplasia) is reported. This congenital disorder is a mesodermal ‘dysplasia’, with some ectodermal participation. In the literature, pedigrees of patients with familial occurrence suggest a dominant mode of inheritance; their family data do not deny the Goltz hypothesis that an excess number of females is due to genes which are lethal in males. New mutation should be present because selection was certainly present by the lack of offspring. There might be cases due to phenocopy. Possible environmental factors for maldevelopment were collected from the literature and from our case.

Probable identity of Goltz syndrome and Van Allen‐Myhre syndrome: Evidence from phenotypic evolution

“…Family history will usually fail to raise suspicion since 95% of cases of Goltz syndrome are sporadic [Fryns et al, 1978]. Even in reports of familial recurrence, typically the birth of a clearly affected infant is to a mother who is so mildly clinically affected that the diagnosis is made only retrospectively [Ishibashi and Kurihara, 1972; Wechsler et al, 1988]. Given how rare clavicular pseudarthrosis is [Gibson and Carroll, 1970], this feature might be helpful prenatally in establishing a tentative diagnosis of Goltz syndrome.…”

“…Most affected individuals are female [Hall and Terezhalmy, 1983]. This and features present in those families in which transmission has occurred suggest an X‐linked dominant process [Ishibashi and Kurihara, 1972]. Consistent with the postulate of an X‐linked locus, a few instances of focal dermal hypoplasia show an Xp22 deletion [Naritomi et al, 1992].…”

Focal Dermal Hypoplasia (Goltz Syndrome): Report of Two Cases with Minor Cutaneous and Extraeutaneous Manifestations

“…Focal dermal hypoplasia is an uncommon genetic dysplasia of mesodermal and ectodermal tissue, probably transmitted by X-linked dominant inheritance with lethality in hemizygous males (3)(4)(5)(6)(7)(8)(9)(10)(11)(12)(13)(14)(15). Atrophic areas in a cribriform or reticulated pattern, lipomatous nodules, aplasia cutis, papillomatous lesions, and nail changes constitute the major dermatologic manifestat~~ns of this disorder.…”

Focal dermal hypoplasia syndrome

“…Our patient's biopsy was taken at an unusually early age and it is possible that the dermal hypoplasia more usually observed is a consequence of infiammatory changes of the kind seen in this patient. The condition is well reviewed by Goltz et al (1970), andIshibashi &Kurihara (1972). Of the fifty-six reported cases, only eight have been boys.…”