ABSTRACT
BACKGROUND: Buschke-Ollendorff syndrome is a rare autosomal dominant disease featuring osteopoikilosis and skin lesions. It is caused by genetic mutations in a protein deeply involved in bone and connective tissue morphogenesis. METHODS: We describe a 39-year-old woman with Buschke-Ollendorff syndrome. RESULTS: After a minor trauma, radiologic examination of the left ankle of a 39-year-old woman revealed features of osteopoikilosis. Physical examination of the patient showed multiple asymptomatic nodules on both thighs, present since the age of 20 years, which had increased in size and number. Recently, a linear, string-like lesion had appeared on the right thigh. CONCLUSION: The correct diagnosis of Buschke-Ollendorff syndrome may require a high index of suspicion.
Subject(s)
Leg Dermatoses/diagnosis , Osteopoikilosis/diagnosis , Skin Diseases, Genetic/diagnosis , Adult , Female , Humans , Leg Dermatoses/pathology , Osteopoikilosis/pathology , Skin/pathology , Skin Diseases, Genetic/pathology , SyndromeABSTRACT
A 2-year-old girl presented with hair that naturally stood out from her scalp. Her mother reported that the girl's hair had been impossible to comb since the first month of life. The child's eyebrows and lashes were normal. Scanning electron microscopy confirmed the presence of grooving on the hair shaft. Moreover, eight cafè-au-lait macules larger than 5 mm on the trunk and the limbs, and freckles in the axillary regions were observed. Neurologic examination showed some difficulties in motor organization and dyslalia. Magnetic resonance imaging illustrated multiple cerebral hamartomas. Molecular analysis disclosed microdeletion of gene 17q.11.2. Additional features included arched palate, a single palmar crease on one hand and low-set ears, which, together with bone abnormalities, have been previously associated with uncombable hair. This is the first report, to the best of our knowledge, of uncombable hair syndrome in a patient with neurofibromatosis type I.
Subject(s)
Hair Diseases/complications , Hair/abnormalities , Intellectual Disability/complications , Neurofibromatosis 1/complications , Palate/abnormalities , Child, Preschool , Dermatoglyphics , Facies , Female , Hair Diseases/pathology , Humans , Neurofibromatosis 1/pathologyABSTRACT
BACKGROUND: Videocapillaroscopy (VCP) can be used to explore microcirculatory modifications in skin diseases. Psoriasis shows specific capillary alterations reflecting typical histopathological changes. OBJECTIVE: To compare capillary morphology, distribution and density in psoriasis and seborrheic dermatitis of the scalp for differential diagnosis. METHODS: VCP was performed on histology-confirmed scalp lesions of 30 patients with chronic plaque psoriasis, 30 age- and sex-matched patients with seborrheic dermatitis and 30 healthy subjects. The morphology, mean density per mm(2) and mean diameter of capillary loops was measured. RESULTS: Scalp psoriasis exhibited homogeneously tortuous and dilated capillaries (bushy pattern), with a 73 +/- 17 mum (mean +/- standard deviation) diameter of capillary bushes. In contrast, scalp seborrheic dermatitis presented a multiform pattern, with mildly tortuous capillary loops and isolated dilated capillaries, but a substantial preservation of local microangioarchitecture. Mean diameter of capillary bush was significantly lower (27 +/- 4 microm; p < 0.001) and similar to that of the scalp of healthy subjects (21 +/- 5 microm). Capillary loop density was similar in patients with psoriasis (23 +/- 5/mm(2)) seborrheic dermatitis (24 +/- 2/mm(2)) and healthy scalp skin (24 +/- 3/mm(2)). CONCLUSION: VCP could be a useful noninvasive approach for differentiating between psoriasis and seborrheic dermatitis, especially when the scalp is the only affected site.
Subject(s)
Dermatitis, Seborrheic/diagnosis , Microscopic Angioscopy/methods , Microscopy, Video , Psoriasis/diagnosis , Scalp , Skin/blood supply , Adult , Aged , Capillaries/pathology , Diagnosis, Differential , Female , Humans , Male , Middle Aged , Reproducibility of ResultsABSTRACT
BACKGROUND: Rosacea is a common chronic dermatosis that involves the cutaneous microvasculature of the face. There are no objective measures for assessing the severity of erythematotelangiectatic rosacea. OBJECTIVE: Our purpose was to characterize and provide objective measures of vessel changes in erythematotelangiectatic rosacea by videocapillaroscopy. METHODS: We compared 30 patients with erythematotelangiectatic rosacea with 30 age- and sex-matched patients with facial seborrheic dermatitis and 30 healthy control subjects. Videocapillaroscopy was performed both on the cheeks and on the nailfold region. The analyzed parameters of the face were morphological (background color, vessel irregularities) and quantitative (polygonal net perimeter, telangiectasia, and vessel diameters). RESULTS: Characteristic alterations of skin vessels were observed in facial rosacea, with a pattern distinct from that of facial seborrheic dermatitis. In particular, rosacea showed neoangiogenesis and significantly larger polygons (13.21 +/- 3 vs 7.8 +/- 3 mm; mean +/- standard deviation, P < .001), more prominent telangiectases (267.8 +/- 108 vs 118.2 +/- 35 microm; P < .001) and larger mean vessel diameter (46.71 +/- 9 vs 24 +/- 10 microm; P < .001) compared with seborrheic dermatitis. Seborrheic dermatitis displayed more polygon irregularities and vessel tortuosity. In contrast, no differences were found in the nailfold region. LIMITATIONS: Vessel irregularities and overall erythema may be difficult to quantify. CONCLUSIONS: Videocapillaroscopy may represent a valid adjunctive method in the early diagnosis and measurement of erythematotelangiectatic rosacea.
