Case Of Focal Dermal Hypoplasia Research Articles

A case of focal dermal hypoplasia

A 17-year-old boy presented with multiple striated erythema and papules at birth.The erythema was fragile,easily damaged,and often healed leaving hypopigmented patches.The right first and second finger nails were hypoplastic.Generalized linear or whorled hyperpigmented patches gradually developed,and some yellow-pink papules enlarged into plaques with age.Multiple papillomatous papules appeared during childhood,which were mainly distributed in the perioral region.Skin examination revealed widespread linear or whorled hyperpigmented patches intermingled with scattered hypopigmented patches and yellow-pink plaques,which were mainly located in the trunk.Multiple papillomatous papules were observed in the perioral region,mandibular region,and right popliteal fossa.Skin biopsy showed epidermal parakeratosis,diminished dermal thickness,increased blood vessel density in dermal papillae,upward migration of subcutaneous layer known as fat herniation.A diagnosis of focal dermal hypoplasia was made. Key words: Focal dermal hypoplasia; Dermis; Diagnosis, differential

Focal Dermal Hypoplasia: Report of a Case with Myelomeningocele, Arnold–Chiari Malformation and Hydrocephalus with a Review of Neurologic Manifestations of Goltz Syndrome

Focal dermal hypoplasia (Goltz syndrome, Online Mendelian Inheritance in Man [OMIM] 305600) is a rare X-linked dominant congenital disorder involving defects of mesodermal- and ectodermal-derived structures. It is associated with mutations in the PORCN gene, a regulator of Wnt signaling proteins. The phenotype is highly variable, although all describe characteristic skin findings as a primary diagnostic feature. To date there are few case reports of focal dermal hypoplasia associated with central nervous system abnormalities. We report the second case of focal dermal hypoplasia associated with myelomenigocele, Arnold-Chiari malformation and hydrocephalus and the first in a male. Genetic testing identified a novel mosaic three base pair deletion within the PORCN gene (c.853_855delACG). This case highlights the importance of neurological evaluation in focal dermal hypoplasia and consideration of other syndromes more commonly associated with central nervous system abnormalities. In this report we summarize the literature on neurological manifestations in Goltz syndrome.

A Novel Mutation in the <emph type="ital">PORCN</emph> Gene Underlying a Case of Almost Unilateral Focal Dermal Hypoplasia

Focal dermal hypoplasia (also known as Goltz syndrome) is an X-linked dominant syndrome characterized by patchy hypoplastic skin with soft-tissue, skeletal, dental, and ocular defects that are secondary to mutations in the PORCN gene. To our knowledge, only 5 cases of focal dermal hypoplasia with unilateral presentation have been reported, and molecular studies were not performed in any of the cases. A 17-year-old girl was seen with features of almost unilateral focal dermal hypoplasia. These included left cleft hand, dental dysplasia, left mammary hypoplasia, deviation of the sacral line, raspberrylike papillomas in the perianal region, syndactyly of the second and third digits of the left foot, and linear streaks of dermal hypoplasia and pigmented lesions on her left hemibody. Mutation analysis of PORCN revealed a novel heterozygous mutation in exon 10, c.854-855insACCTGAC; [p.T285fsX316], resulting in a premature stop signal. Analysis of the X-chromosome inactivation status was performed on blood and skin DNA samples, showing random inactivation in blood and unaffected skin and skewed inactivation in affected skin, highlighting the role of X-chromosome inactivation in X-linked disease expression.

A case of focal dermal hypoplasia (Goltz) syndrome with exophytic granulation tissue treated by curettage and photodynamic therapy

Focal dermal hypoplasia (Goltz) syndrome is a rare genetic disorder characterized by cutaneous, ectodermal and mesodermal defects. We present a case in which painful, exophytic granulation tissue has been the main symptom over the past 15 years. After unsatisfactory results with a number of treatment modalities including topical steroids, silver-nitrate applications, cryotherapy, curettage, excision and pulsed-dye laser, we achieved significant benefit with curettage in combination with photodynamic therapy. Although impaired wound healing has been described in focal dermal hypoplasia, this is, to our knowledge, the first time that pyogenic granuloma-like lesions have been reported.

Three cases of focal dermal hypoplasia (Goltz syndrome)

Focal dermal hypoplasia or Goltz syndrome is a rare genodermatosis, characterized by multiple abnormalities of ectodermal and mesodermal origin. It is found predominantly in females and is characterized by hypoplasia of skin and papillomas. Three cases of focal dermal hypoplasia in infancy with unusual inheritance patterns are reported. Cutaneous features were atrophic reticulated scars involving the trunk and extremities following the lines of Blaschko. Papillomas were present on the genitalia and in a periorificial distribution. Skeletal abnormalities included syndactyly, polydactyly and lobster claw deformities. Ophthalmological examination revealed strabismus and retinal colobomas.

Enamel defects and Lyonization in focal dermal hypoplasia

We report a pattern of enamel hypoplasia in focal dermal hypoplasia similar to that found in females with X-linked amelogenesis imperfecta. Three cases of focal dermal hypoplasia are described, with specific focus on the oral and dental features. In these cases the teeth all had vertical grooving with notching of the incisal or cuspal tips. Also recorded were blunt roots of taurodont form with open apices and missing teeth in 1 case. Oral papillomas were present in 2 cases. The pattern of enamel defects is attributed to Lyonization, which is consistent with the pattern of skin and bone lesions typically seen in focal dermal hypoplasia. This supports the proposal that focal dermal hypoplasia is X-linked. The authors conclude that the pattern of dental defects in focal dermal hypoplasia is consistent with Lyonization.

Focal dermal hypoplasia: report of a case with cutaneous and skeletal manifestations

Focal dermal hypoplasia is a rare genodermatosis characterized by developmental defects of the skin, resulting in widespread linear lesions of dermal hypoplasia with adipose tissue in the dermis. We describe a 13-year-old girl who has typical cutaneous lesions which have been present since birth; she also has some of the associated dental, nail and skeletal abnormalities, while an X-ray of the long bones osteopathia striata is visible, a feature seen in a high proportion of cases of focal dermal hypoplasia. Eighty-eight per cent of the case reports in the literature are of females and X-linked dominance is the likely mode of inheritance. It has also been proposed that the condition is lethal in homozygous males and the high frequency of miscarriages on the maternal side of this patient's family is consistent with that lethality in males. The literature, particularly with regard to pathogenesis and inheritance, is discussed.

Focal Dermal Hypoplasia with an Initial Inflammatory Phase

We report a case of focal dermal hypoplasia with an initial inflammatory phase. Although our patient had dark red macules and papules and red linear atrophic lesions at birth, her lesions were somewhat faded at 3 months of age and had become yellowish before 5 months of age. Histologic examination of lesions at 3 months of age showed marked edema in the papillary dermis, mononuclear cell infiltration, a prominent fibroblastic population, and a large cluster of dermal lipocytes, suggesting an association between the inflammation and the development of dermal adipose tissue.

Hypoplasie dermique en aires

A typical case of focal dermal hypoplasia is described. Despite its widely distributed cutaneous involvement, the only extracutaneous anomaly observed was a syndactyly of the 2nd and 3rd digits of the right foot.

Letter: Striated osteopathy in focal dermal hypoplasia.

To the Editor.— We have read with great interest the article in theArchivesby Gottlieb et al (108:551-553, 1973) concerning a case of focal dermal hypoplasia. The descriptions of clinical and roentgenographic findings are very detailed. We have some doubts, however, about the interpretation of the metaphysial bone texture. The authors have observed a modification that they attribute to osteoporosis. After examination of nine focal dermal hypoplasias, we have noted the presence of a striated osteopathy in all female cases. Striated osteopathy may be defined as a particular osteocondensation made up of fine, opaque, parallel vertical bands. These bands spread from the juxtaepiphysial part through the metaphysis, where they are broader, to the juxtametaphysial part of the diaphysis, where they grow thinner and fade off. This striated osteopathy is bilateral and symmetrical; it involves the metaphysis of the long bones. These conclusions were first published by Larregue et al

Asymmetric manifestations of an apparently new syndrome: Depressed and pitted skin, facial tumors, syndactyly, and other congenital defects

Summary A male patient is reported with bands of depressed hypopigmented skin, many small skin pits, lesions of the nipple, streaks of linear pigmentation, cryptorchidism, an apparent branchial cyst, polydactyly, and other congenital defects, all but one of which were on the left side. Although this combination may represent a mild and atypical case of focal dermal hypoplasia, it appears more likely that it is an example of a new syndrome. The origin of marked asymmetry in this and similar cases may be due to: (1) the clonal origin of variant cells with unilateral effect, and/or (2) the existence of a differential right-left teratogenic threshold.