Cases reported "rothmund-thomson syndrome"

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1/97. Abnormal deposition of type VII collagen in Kindler syndrome.

    Kindler syndrome is an extremely rare genetic disorder with features of epidermolysis bullosa and poikiloderma congenitale. Approximately 70 cases have been documented in the past 50 years, but only a few investigations of the basement membrane components have been done on these patients. The aim of this study was to examine the components of the basement membrane zone in search of the pathobiological defect(s) responsible for the clinical findings from a female 16-year-old patient diagnosed with Kindler syndrome. This patient also suffered from advanced early-onset periodontal disease. Biopsies were taken from inflamed gingiva and noninflamed oral mucosa as part of periodontal treatment. The basement membrane zone was examined using immunofluorescence microscopy to bullous pemphigoid antigens 1 and 2, collagen types IV and VII, laminins-1 and -5, and integrins alpha3beta1 and alpha6beta4. The biopsies studied revealed blistering with trauma above the level of lamina densa based on distribution of type IV collagen and laminin-1 at the blister floor. In the noninflamed mucosa, discontinuous areas of the basement membrane zone were found. Expression of the basement membrane zone components and the integrins studied appeared otherwise normal with the exception of type VII collagen which was found in abnormal locations deep in the connective tissue stroma. Our results suggest that Kindler syndrome is associated with abnormalities in the construction of the basement membrane, especially in the expression of type VII collagen. These alterations are likely to play a role as etiological factors leading to blister formation and early onset periodontal disease. ( info)

2/97. Kindler syndrome: absence of definite ultrastructural feature.

    Kindler syndrome is characterized by congenital blister formation, photosensitivity, poikiloderma, and cutaneous atrophy in later life. There are few reports about the ultrastructural features of this syndrome, but still there is no consensus about the basic disease. Here we report a case of Kindler syndrome with ultrastructural findings. ( info)

3/97. Congenital poikiloderma with unusual hypopigmentation and acral blistering at birth.

    Congenital poikiloderma is an uncommon hereditary disorder. It has been reported in association with various syndrome. No case has previously been reported from this environment. We report a case of congenital poikiloderma in a two and a half year old female Nigerian associated with unusual generalised hypopigmentation and acral blisters at birth. The child subsequently developed macular hyperpigmentation on an erythematous background and atrophy of the skin. Although she had some features which were suggestive of rothmund-thomson syndrome (RTS), the presence of hypopigmentation at birth, along with acral blistering, was noted to be peculiar to this child. We, therefore, feel that this case presents a distinct variant of congenital poikiloderma that has not been described previously. ( info)

4/97. Squamous cell carcinoma of the tongue in a patient with rothmund-thomson syndrome.

    rothmund-thomson syndrome is a rare autosomal recessive genodermatosis characterised by poikilodermatous skin changes that appear in childhood. patients exhibit variable additional features including juvenile cataracts, skeletal abnormalities and a higher than expected incidence of malignancies. We report a case of squamous cell carcinoma of the tongue in a 37-year-old rothmund-thomson syndrome patient and review the natural history of this rare disease, given that the patient was diagnosed with rothmund-thomson syndrome at the age of 8 years and was first reported in 1975. ( info)

5/97. Excision repair defect in Rothmund Thomson syndrome.

    Rothmund Thomson syndrome is a rare autosomal recessive skin disorder. The main clinical feature is poikiloderma appearing in early childhood associated with skeletal abnormalities. Early occurrence of malignancies is another relevant feature. Here we describe the clinical features of 2 patients with Rothmund Thomson syndrome who were investigated for the in vitro dna repair capacities of blood cells following UVC radiation exposure. DNA excision repair, assessed with unscheduled DNA synthesis following UVC exposure, was decreased in both patients. Such a defect might explain the patients' sensitivity to sunlight and the relatively high risk of cancer associated with this syndrome. ( info)

6/97. rothmund-thomson syndrome with herpes encephalitis.

    A 4-year-old Japanese boy with rothmund-thomson syndrome suffered from severe herpes encephalitis at 5 months of age. The serum level of immunoglobulin g was low and the responsiveness of peripheral blood mononuclear cells to bacterial superantigens was poor. It was suggested that these immunological abnormalities, possibly associated with rothmund-thomson syndrome, led to severe infection with herpes simplex virus in our patient. ( info)

7/97. Aplastic anemia in a patient with rothmund-thomson syndrome.

    This report is the first to describe constitutional aplastic anemia in a patient with rothmund-thomson syndrome (also called poikiloderma congenitale), a disease characterized by multiple cutaneous and extracutaneous findings. The findings suggest that although rothmund-thomson syndrome is a rare disease, vigilance for the development of associated hematologic abnormalities is warranted. ( info)

8/97. Familial cases of poikiloderma of Civatte: genetic implications in its pathogenesis?

    Poikiloderma of Civatte (PC) is a rather common, benign skin condition of obscure etiopathogenesis: cumulative exposure to UV radiation, hormonal changes associated with the menopause, and photo-allergic mechanisms have been implicated. We present seven cases of PC among the members of two unrelated Greek families, who have not shared common extrinsic influences. literature review revealed no other reported familial cases. Familial tendencies, as well as the not unusual occurrence of PC in individuals with minimal sun exposure, and who are not using perfumes or cosmetics, provide support for the hypothesis that a genetic predisposition to the disease may exist; this predisposition is possibly transmitted as an autosomal dominant trait. ( info)

9/97. Haematological disease in siblings with rothmund-thomson syndrome.

    We report two siblings with rothmund-thomson syndrome (RTS); the older sister died of acute myeloblastic leukaemia and the younger sister has a slowly progressive leucopenia. Her prognosis is guarded in view of the increased incidence of neoplasms in this condition. More than 200 cases of RTS have now been reported worldwide.1 This is the first report of siblings with haematological disease and RTS. ( info)

10/97. Corneal subepithelial nodular scarring treated with phototherapeutic keratectomy in a child with rothmund-thomson syndrome.

    PURPOSE: To report the use of excimer laser phototherapeutic keratectomy (PTK) in the treatment of corneal subepithelial nodular scarring in a child with rothmund-thomson syndrome (RTS), a form of ectodermal dysplasia. methods: A case report and review of the literature. RESULTS: Excimer laser PTK successfully treated the recurrent anterior stromal fibrosis and irregular astigmatism, facilitating visual development. The use of excimer laser PTK prevented the development of dense amblyopia in this child. CONCLUSION: This case demonstrates an indication for excimer laser PTK in the pediatric population. ( info)
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