1/15. 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.- - - - - - - - - - ranking = 1keywords = adipose (Clic here for more details about this article) |
2/15. 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.- - - - - - - - - - ranking = 1.1386860598953keywords = adipose, fat (Clic here for more details about this article) |
3/15. 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.- - - - - - - - - - ranking = 2.0198122942708keywords = adipose, fat (Clic here for more details about this article) |
4/15. focal dermal hypoplasia with exuberant fat herniations and skeletal deformities.focal dermal hypoplasia or Goltz syndrome is a rare congenital and mesoectodermal dysplasia with multisystemic involvement. Although the genetic alterations responsible for focal dermal hypoplasia are not fully known, there is predominance in affected females, suggesting dominant X-linked inheritance. Besides the skin, other structures frequently involved are the skeletal system, eyes, teeth, hair, and nails. Skeletal abnormalities are predominantly observed in the hands and feet. We report a 9-year-old girl who had typical linear skin atrophy on the trunk, exuberant "fat herniations," several skeletal abnormalities, and exuberant "lobster claw" deformity. In addition, she had the typical longitudinal striations in femur metaphyses. With regard to family history, her mother had one male stillbirth with several deformities. This typical focal dermal hypoplasia patient is considered valuable in light of the affected male stillbirth and parents with nonaffected phenotypes that together provides evidence for mother-to-daughter spontaneous transmission.- - - - - - - - - - ranking = 0.099061471353762keywords = fat (Clic here for more details about this article) |
5/15. focal dermal hypoplasia (Goltz syndrome).A 7-year-old girl born of non-consanguineous marriage was evaluated for facial dysmorphism. She had multiple skeletal anomalies like hypoplasia of the right mandible, narrow nasal bridge with broad tip and unilateral notching of the right ala nasi, concomitant squint and low set ears. She also had generalized hypopigmented, atrophic linear macules, multiple papillomas, fat herniations, umbilical hernia, hypoplastic nails, cicatricial alopecia, mild mental retardation, 'lobster-claw' hand and osteopathia striata of long bones, pointing to a diagnosis of Goltz syndrome. The unusual features noted were absence of the left first rib and aortic regurgitation.- - - - - - - - - - ranking = 0.019812294270752keywords = fat (Clic here for more details about this article) |
6/15. Minimal focal dermal hypoplasia in a man: a case of father-to-daughter transmission.focal dermal hypoplasia is a rare genetic disorder characterized by diffuse and specific cutaneous lesions. Multiple visceral abnormalities are frequently associated. A minimal form of the disease (only cutaneous and localized to one thigh) is reported in the father of a woman who had typical focal dermal hypoplasia.- - - - - - - - - - ranking = 0.099061471353762keywords = fat (Clic here for more details about this article) |
7/15. Father-to-daughter transmission of focal dermal hypoplasia associated with nonrandom X-inactivation: support for X-linked inheritance and paternal x chromosome mosaicism.focal dermal hypoplasia (FDH) is a rare syndrome of severe developmental anomalies of the tissues and organs derived from ectoderm and mesoderm. Though data have suggested that FDH is an X-linked dominant trait associated with male hemizygote lethality, a hypothesis supported by the observation of three unrelated infants with FDH manifestations and de novo chromosome rearrangements involving Xp22, observations of father-to-daughter transmission have suggested possible genetic heterogeneity and autosomal dominant inheritance with sex limitation. We hypothesize that, if FDH is an X-linked disorder, cells expressing an active disease locus might experience a selective disadvantage resulting in a nonrandom pattern of X-inactivation in patient tissue. To test this hypothesis, we studied one of the two previously described families demonstrating father-to-daughter inheritance of FDH. To determine if the affected daughter had a skewed pattern of X-inactivation consistent with X-linked inheritance of FDH, somatic cell hybrids were constructed by fusing hypoxanthine phosphoribosyl transferase (HPRT)-deficient rodent fibroblasts with either patient dermal fibroblasts or peripheral white blood cells (WBCs); hybrid clones retaining an active x chromosome were analyzed to determine the parental origin of the active x chromosome. Analyses of resulting hybrid clones showed that while hybrids constructed from skin fibroblasts contained an active x chromosome inherited from either of the patient's parents, hybrids constructed from WBCs showed a skewed pattern of X-inactivation; 11 of 11 hybrids contained an active maternal x chromosome (chi 2 = 12.2, P = .001).(ABSTRACT TRUNCATED AT 250 WORDS)- - - - - - - - - - ranking = 0.039624588541505keywords = fat (Clic here for more details about this article) |
8/15. 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.- - - - - - - - - - ranking = 1keywords = adipose (Clic here for more details about this article) |
9/15. Anophthalmia in the focal dermal hypoplasia syndrome.We examined an orbital exenteration specimen from an anophthalmic patient with focal dermal hypoplasia. Eyelid angiofibromas were evident and immunoperoxidase studies for human papilloma virus were negative. Orbital tissue contained a ductal cyst, chronic inflammation of the lacrimal duct and sac, rudimentary conjunctival fornices, lacrimal gland, striated muscle, and adipose tissue. Microscopic examination revealed a posteriorly located cystic structure with uveal and lens remnants. Neuroectodermal structures consistent with retina, optic nerve, or meninges were not observed, thus representing true anophthalmia. These findings remain as the only histopathologic description of ocular tissues in patients with focal dermal hypoplasia.- - - - - - - - - - ranking = 1keywords = adipose (Clic here for more details about this article) |
10/15. Cutaneous defects of focal dermal hypoplasia: an ectomesodermal dysplasia syndrome.The 5 major cutaneous defects of development found in focal dermal hypoplasia, an ectomesodermal dysplasia syndrome, are: aplasia cutis congenita, multiform atrophy-like areas, striate, papillomatous, and lipomatous lesions of skin. Subepidermal lipomatosis, present in some lesions, has been reported to be due to absence of dermis or a striking underdevelopment of connective tissue with replacement by adipose tissue from herniation of subcutaneous fat through multiple areas of hypoplasia. We believe this theory to be a major error in interpretation of the microscopic findings. We have had the unique experience of studying 2 patients periodically for 27-30 years and 2 additional patients for a shorter time. biopsy specimens were removed at intervals for analysis from the same or similar lesions (43 specimens) from these 4 individuals. Our evidence strongly supports the concept that the cutaneous defects of development involving fat cells represent heterotopic fat i.e. a fat nevus resulting from dysplasia, not hypoplasia followed by herniation of subcutaneous fat.- - - - - - - - - - ranking = 1.0990614713538keywords = adipose, fat (Clic here for more details about this article) |
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