Cases reported "Focal Dermal Hypoplasia"

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1/37. 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.
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ranking = 1
keywords = defect
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2/37. truncus arteriosus and other lethal internal anomalies in Goltz syndrome.

    An infant girl of 36 weeks gestational age was found to have cardiovascular and other lethal internal anomalies in addition to characteristic external abnormalities of focal dermal hypoplasia (Goltz syndrome). The internal anomalies included truncus arteriosus type II with truncal origin of hypoplastic pulmonary arteries, cardiac ventricular septal defect, severe hypoplasia of lungs and pulmonary veins, massive diaphragmatic hernia, and absence of the right kidney. Such a combination of severe anomalies has not been reported previously in Goltz syndrome.
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keywords = defect
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3/37. Recurrent digital fibroma, focal dermal hypoplasia, and limb malformations.

    Recurrent digital fibroma of infancy generally is considered a sporadic tumor of childhood. We describe the case of a mother with recurrent digital fibroma at a young age who gave birth to a daughter with focal dermal hypoplasia, coloboma of the iris and eyelids, anal atresia, and extensive limb malformations. When the infant was 3 months old, fibromas started to appear at the fingertips. The cases of three additional patients are described, with a similar combination of multiple digital fibromas, pigmented marks on the temporal region, and limb malformations. One of these patients has consanguineous parents. The clinical findings overlap partially with Gorlin-Goltz syndrome, which has been renamed by some authors "microphthalmia with linear skin defects" (MLS). Since the skin signs are clearly different, however-more like those of Setleis syndrome ("forceps mark" temporal dysplasia)-the patients described here seem to have a new combination of congenital malformations. Deletion of distal Xp, known to occur in some MLS patients, was not detected using cosmids in fluorescence in situ hybridization. This pattern of digital fibroma with congenital malformations seems to represent a new syndrome.
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ranking = 157.77964898216
keywords = congenita, dysplasia, defect
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4/37. Focal facial dermal dysplasia or aplasia cutis congenita: a case with a hair collar.

    Aplasia cutis congenita describes localized defects of skin that may have many causes. A 6-month-old male presented with bilateral atrophic patches on his cheeks distributed along a line from the preauricular area to the angle of the mouth. They had been present since birth. He had no other abnormalities detectable on examination and no family history of similar lesions. A distinct collar of long pale hairs surrounded the lesions, especially the largest one. histology showed changes consistent with aplasia cutis congenita or focal facial dermal dysplasia. We propose our patient's lesions may be the result of failure of ectodermal fusion over embryological closure lines. This may be a distinct subgroup of atrophic facial lesions.
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ranking = 137498.9066922
keywords = aplasia cutis congenita, cutis congenita, aplasia cutis, congenita, dysplasia, aplasia, cutis, defect
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5/37. nevus angiolipomatosus vs focal dermal hypoplasia.

    Widespread linear hamartoma of vascular, elastic, adipose, and connective tissue was observed in two girls with another and opposite defect, that of failure of development of focal areas of dermis. No abnormality in number or chromosones was found. Multiple associated defects of development of mesodermal and ectodermal tissues were present. The fat tissue appeared to be associated with vascular proliferation in the papillary bodies and to crowd out the corium by downward infiltration of newly developed fat. elastic tissue fibers were demonstrable crossing between the fat cells and were prominent in the superficial dermis. There was a definite stratum of dermis dividing the superficial nevus fat and the normal subcutaneous fat. This evidence justifies the explanation of the superficial fat tumors as nevoid neoplasms rather than herniations of subcutaneous fat.
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ranking = 2
keywords = defect
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6/37. A male with polysyndactyly, linear skin defects and sclerocornea. Goltz syndrome versus MIDAS.

    focal dermal hypoplasia (FDH) or Goltz syndrome is a rare clinical syndrome presenting with cutaneous, skeletal, dental, ocular, central nervous system and soft-tissue defects. We report on a male infant with characteristic skin defects of the face, trunk and extremities, polysyndactyly and unusual ocular and brain findings. He had sclerocornea of the right eye, anterior persistent hyperplastic primary vitreous of the left eye and hydrocephalus. Clinical findings support the diagnosis of Goltz syndrome. The clinical picture of Goltz syndrome is compared with that of MIDAS syndrome.
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ranking = 6
keywords = defect
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7/37. Histopathological study of focal dermal hypoplasia (Goltz syndrome).

    We report a case of focal dermal hypoplasia, or Golz syndrome in a 13-year-old girl. The patient presented with a variety of cutaneous defects, including atrophy-like depressions, striations, a verrucous papilloma, and lipomas. Histopathological examination showed deposits of fat cells or adipose tissue in the dermis, which were subepidermal, mid-dermal, perivascular, or involved the whole dermis. These findings indicate that the adipose tissue in the dermis is a result of dermal dysplasia and not hypoplasia.
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ranking = 38.765473999816
keywords = dysplasia, defect
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8/37. New syndrome: focal dermal hypoplasia, morning glory anomaly, and polymicrogyria.

    Regional skin hypoplasia has been described in several genetic syndromes, including focal dermal hypoplasia (FDH), microphthalmia with linear skin defects (MLS), oculocerebrocutaneous syndrome (OCCS), and terminal osseous dysplasia and pigmentary defects (TODP). All but OCCS have been reported to follow an X-linked inheritance pattern. We describe a 14-year-old girl with clinical features overlapping with these disorders. She had mild mental retardation, macrocephaly, microphthalmia, right-sided morning glory optic disc anomaly, palmar and lip pits, and polysyndactyly. A swirling pattern of skin hypopigmentation, papular hypopigmented and herniated skin lesions reminiscent of FDH most prominent over her face, head, hands, and feet was evident. brain magnetic resonance imaging (MRI) showed polymicrogyria (most severely in the perisylvian and mesial frontal regions), enlarged left lateral ventricle, partial agenesis of the corpus callosum, and optic nerve tumor on the right. Dermatopathologic examination of the skin lesions was consistent with basaloid follicular hamartomas. The skin and digit anomalies observed overlap with FDH, but polymicrogyria, basaloid follicular hamartomas, optic nerve tumor, and morning glory anomaly have not previously been described in FDH. skin defects in MLS are linear and the eyes typically have sclerocornea. Polymicrogyria has been described in OCCS, but not in any of the other three syndromes. The limb anomalies in TODP are reductions rather than polysyndactyly. skin defects are localized to the face, and digital fibromas usually occur. While significant overlap exists between all four of the syndromes discussed, we believe that the constellation of anomalies observed in this girl most likely comprises a newly recognized syndrome.
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ranking = 41.765473999816
keywords = dysplasia, defect
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9/37. focal dermal hypoplasia syndrome in a male patient. Report of a case and histologic and immunohistochemical studies.

    BACKGROUND--focal dermal hypoplasia (FDH) is a rare ectomesodermal dysplasia syndrome characterized by cutaneous, skeletal, dental, ocular, and soft-tissue defects. An X-linked dominance with death of male subjects has been assumed as the mode of inheritance. Only a few cases of FDH have been reported in male subjects. A 68-year-old man had typical skin lesions of FDH. Clinical, histologic, and immunohistochemical features are presented. OBSERVATIONS--The cutaneous abnormalities consisted of atrophic hyperpigmented and hypopigmented macules and erythematous, slightly raised lesions showing a highly characteristic linear distribution. Other abnormalities, including syndactyly, apocrine hidrocystoma of eyelids, and bilateral cholesteatoma were observed. Only one case of FDH in association with an apocrine hidrocystoma has been reported previously. Consistent findings microscopically in the erythematous lesions were areas of scar formation with subepidermal bulla overlying the neodermis. A strongly positive immunohistochemical reaction for vimentin, fibronectin, and collagen type iii was observed in the scar tissue. No collagen type iv was detected in the basement membrane zone of the epidermis covering the lesion. CONCLUSION--It has been proposed that fibroblastic abnormalities may lead to an alteration of collagen synthesis in FDH, although confirmation of this hypothesis was unavailable. Our findings suggest that production of collagen type iv may be delayed in FDH resulting from a fibroblastic defect.
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ranking = 39.765473999816
keywords = dysplasia, defect
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10/37. Focal skin defect, limb anomalies and microphthalmia.

    We describe two unrelated female patients with congenital single focal skin defects, unilateral microphthalmia and limb anomalies. growth and psychomotor development were normal and no brain malformation was detected. Although eye and limb anomalies are commonly associated, clinical anophthalmia and limb defects have not been reported with single focal aplasia of the skin. The described features may be compatible with a mild phenotypic variant of Goltz syndrome or may represent a previously undescribed syndrome.
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ranking = 84.36665348081
keywords = congenita, aplasia, defect
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