1/140. Two forms of cutis laxa presenting in the newborn period. Two infants are described with congenital cutis laxa. They represent two distinct disorders. In the first, congenital cutis laxa is associated with a generalized disorder of elastic tissue in which there may be diaphragmatic or other hernias, diverticula of the gastrointestinal or urinary tract and infantile emphysema. The disease is fatal often within the first year. In the second, congenital cutis laxa is associated with widely patent anterior fontanel, a variety of malformations, and retarded growth and development. Recognition of these distinct syndromes in the newborn period and their recessive inheritance permit realistic discussion of the prognosis which is very different from the benign dominant forms of cutis laxa. ( info) |
| Two sisters with inherited generalized cutis laxa and a young man with possible acquired cutis laxa are presented. ( info) |
3/140. Wrinkly skin syndrome: ultrastructural alterations of the elastic fibers. We report the clinical and pathologic features of a patient with wrinkly skin syndrome. The essential clinical features were wrinkly skin with poor elasticity over the abdomen and on the dorsum of the hands and feet, increased palmar and plantar creases, and a prominent venous pattern over the chest. On light microscopy, histopathologic findings included appreciable heterogeneity in the structure, amount, and distribution pattern of elastic fibers. agglutination and fragmentation of the microfibrillar component and a remarkable decrease in elastin were the major ultrastructural features. The differential diagnosis with other connective tissue disorders is discussed. ( info) |
4/140. Increased fibroblast elastase activity in acquired cutis laxa. BACKGROUND: Acquired cutis laxa is a rare disease characterized by sagging skin, premature wrinkling and reduced skin elasticity. observation: We report a 21-year-old woman, who presented with acquired cutis laxa on the face and the ear lobes. Urticarial papules had preceded for 6 years. There was no systemic involvement. skin specimens were obtained from lax skin and urticarial papules, and from healthy controls. histology showed only few perivascular lymphocytes in lax ear skin and a dense inflammatory infiltrate in urticarial skin. In both biopsies elastic fibres were decreased as demonstrated by computerized morphometric analyses. Elastase activities of fibroblasts in culture were evaluated. There was a 2- to 3-fold increase in elastase activity in urticarial skin fibroblasts, contrasting with a normal elastase activity in lax ear skin. CONCLUSION: Our findings suggest that the inflammatory cells could play a significant role in the destruction of elastic fibres. ( info) |
5/140. Occipital Horn syndrome in a 2-year-old boy. The clinical presentation of Occipital Horn syndrome, a rare X-linked recessive condition, in a 2-year-old boy is described. This is the youngest patient reported so far. The major clinical, pathophysiological and molecular aspects of this condition are summarized. ( info) |
| We report the first case of an acquired form of generalized cutis laxa which has positive serology and a positive polymerase chain reaction (PCR) result for lyme borreliosis. A 44-year-old man complained of excessively loose skin for four years and had no family history of any skin disease. Dermatological examination showed lax and wrinkled skin all over the body (especially on the cheeks and the intertriginous areas). Positive serology for lyme borreliosis and the presence of borrelia burgdorferi dna which was demonstrated by nested PCR in this acquired form of cutis laxa is interesting since it has not been reported in literature previously. ( info) |
7/140. The role of plastic surgery in congenital cutis laxa: a 10-year follow-up. The clinical features and the plastic surgery management of a 23-year-old woman with cutis laxa are presented. Two rhytidectomies were performed in this patient within 1 year. The first was associated with a SMAS flap; the second employed a prehairline incision. The evolution of the aging facial appearance 10 years after the last face lift was evaluated and compared with the preoperative situation. Repeated face lifts seem to be an interesting way to manage patients with cutis laxa. Unlike patients with other disorders of the connective tissue, those with cutis laxa have no vascular fragility and heal well. The role of plastic surgery and the clinical features and timing for operation are reviewed and discussed. ( info) |
8/140. Wrinkling due to mid-dermal elastolysis: two cases and literature review. BACKGROUND: Mid-dermal elastolysis is an acquired disorder of elastic tissue clinically characterized by diffuse fine wrinkling, most often of the trunk and arms. Histologically, a clear band of elastolysis is present in the mid-dermis. OBJECTIVE: Although examples of diffuse elastolysis are well known, only a small number of patients with mid-dermal elastolysis have been reported to date. We present two patients with clinical and histological evidence of mid-dermal elastolysis, review the literature, and summarize the salient features of some common disorders of elastic tissue. methods: The first patient presented with fine wrinkles and papules over the upper arms, upper chest, and axillae, and demonstrated increased laxity of the eyelids. The second patient had striking wrinkles extending in a band-like pattern on her arms, upper chest, back, and abdomen. Neither one of our patients had a previous history of skin inflammation, urticaria, or any other underlying diseases related to their skin changes. skin biopsies were taken from lesional and perilesional skin of both patients, and were stained with hematoxylin and eosin, and with elastic tissue stain. In addition, a tissue sample from Patient 1 was fixed for electron-microscopy. RESULTS: hematoxylin and eosin stains did not demonstrate specific changes or diagnostic patterns. However, elastic tissue stains revealed a band-like loss of elastic tissue in the mid-dermis. elastic tissue in the remaining superficial and deep dermis stained normally. Electron-microscopy was consistent with these findings and revealed significant loss of elastic tissue limited to the mid-dermis. CONCLUSION: We have presented two cases of mid-dermal elastolysis and reviewed the literature. To date, the pathophysiology of mid-dermal elastolysis had not been elucidated and no definitive therapy exists. ( info) |
9/140. Acrogeria of the Gottron type in a mother and son. We report a familial case of acrogeria in a mother and son, with characteristic cutaneous involvement and no clinical signs of vascular ehlers-danlos syndrome (former EDS type IV) in spite of some tendency to bruising. The biochemical and molecular studies did not disclose any abnormality of collagen type iii, which favours the diagnosis of acrogeria. It appears that recognition of acrogeria as an entity is of clinical significance since these cases are not associated with systemic involvement, and specifically with rupture of vessels and internal organs, occasionnally occurring in EDS. ( info) |
10/140. Neuroaxonal leukodystrophy associated with congenital cutis laxa: report of an autopsy case. A male patient, who was born with congenital cutis laxa characterized by cutaneous laxity due to the degeneration of elastic fibers, presented with an arrest of mental and motor development at the age of 3 years. The progressive decline of the psychomotor abilities led to the patient's death at the age of 4 years and 9 months. An autopsy revealed extensive white matter degeneration, characterized by the formation of numerous neuroaxonal spheroids and a diffuse loss of axons and myelin sheaths. The centrum semiovale and the cerebellar white matter were the most severely affected. The ultrastructure of the spheroids was consistent with a dystrophic type of axonal swelling. neurons of the cerebral cortex, cerebellar cortex, and some brain stem nuclei were lost in moderate to severe degrees, and there were relatively few neuroaxonal spheroids in the gray matter. The pallidum and substantia nigra were well preserved. Neuroaxonal leukodystrophy, in which the spheroid formation predominantly affects the white matter, is the rarest variant of primary neuroaxonal dystrophies, and there are very few reports of autopsied cases. Among the reported cases, two Japanese siblings had congenital skin lesions similar to those of our case. The unique association of neuroaxonal leukodystrophy and congenital cutis laxa may form a distinct variant in this disease category. ( info) |