1/113. Respiratory chain complex III [correction of complex] in deficiency with pruritus: a novel vitamin responsive clinical feature.We report a child with an isolated complex III respiratory chain deficiency and global developmental delay who had severe pruritus with elevated plasma bile acid levels. A liver biopsy showed micronodular cirrhosis, and enzymologic evaluation demonstrated an isolated complex III deficiency in both liver and muscle. His pruritus improved and serum bile acid levels decreased after treatment with menadione and vitamin C.- - - - - - - - - - ranking = 1keywords = rate (Clic here for more details about this article) |
2/113. quality of life improvement in a patient with severe atopic dermatitis treated with photopheresis.Atopic dermatitis is a common skin disease characterized by severely pruritic eczematous patches, papular and lichenified plaques, excoriations, cracks, and erosions. photopheresis has been shown to ameliorate the signs and symptoms of atopic dermatitis in some patients. We describe successful results with photopheresis for refractory disease in a patient who chronicled his quality of life weekly for more than 15 years before and during extracorporeal photochemotherapy.- - - - - - - - - - ranking = 1keywords = rate (Clic here for more details about this article) |
3/113. Allelic heterogeneity of dominant and recessive COL7A1 mutations underlying epidermolysis bullosa pruriginosa.The inherited mechanobullous disease, dystrophic epidermolysis bullosa, is caused by type VII collagen gene (COL7A1) mutations. We studied six unrelated patients with a distinct clinical subtype of this disease, epidermolysis bullosa pruriginosa, characterized by pruritus, excoriated prurigo nodules, and skin fragility. mutation analysis using polymerase chain reaction amplification of genomic dna, heteroduplex analysis and direct nucleotide sequencing demonstrated pathogenetic COL7A1 mutations in each case. Four patients had a glycine substitution mutation on one COL7A1 allele (G1791E, G2242R, G2369S, and G2713R), a fifth was a compound heterozygote for a splice site mutation (5532 1G-to-A) and a single base pair deletion (7786delG), and a sixth patient was heterozygous for an out-of-frame deletion mutation (6863del16). This study shows that the molecular pathology in patients with the distinctive clinical features of epidermolysis bullosa pruriginosa is heterogeneous and suggests that other factors, in addition to the inherent COL7A1 mutation(s), may be responsible for an epidermolysis bullosa pruriginosa phenotype.- - - - - - - - - - ranking = 1keywords = rate (Clic here for more details about this article) |
4/113. Prominent pruritic periumbilical papules: A diagnostic sign in pediatric atopic dermatitis.Establishment of diagnostic criteria for atopic dermatitis has been a subject of controversy and frequent reevaluation. The diagnostic criteria of Hanifin and Rajka are those most frequently cited. In order to fit the diagnosis, a patient must demonstrate three major criteria plus four or more minor criteria. Although individually the minor criteria are not diagnostic, their presence suggests the possibility of atopic dermatitis. Recently we evaluated several children who developed prominent periumbilical papules as a major component of their atopic dermatitis. This finding, while not present in all children with atopic dermatitis, can provide a specific clue to diagnosis and should be considered as a new minor criterion for atopic dermatitis in children.- - - - - - - - - - ranking = 1keywords = rate (Clic here for more details about this article) |
5/113. Relapsing polychondritis, smouldering non-secretory myeloma and early myelodysplastic syndrome in the same patient: three difficult diagnoses produce a life threatening illness.multiple myeloma, relapsing polychondritis and myelodysplastic syndrome are all serious diseases in which making a clear diagnosis can be difficult. This case of a 72-year-old man found after extensive investigation to have all three of the above, demonstrates how difficult diagnosis and treatment can be, producing in this case a life threatening clinical syndrome. We also postulate that the association of these three diseases may be an immune-derived complication of myelodysplastic syndrome.- - - - - - - - - - ranking = 1keywords = rate (Clic here for more details about this article) |
6/113. Invisible mycosis fungoides: A diagnostic challenge.We describe a 76-year-old woman who presented persistent generalized pruritus as the only cutaneous manifestation of a cutaneous T-cell lymphoma (mycosis fungoides). No cutaneous lesions were observed throughout the patient's course. skin biopsies obtained from normal-looking pruritic skin revealed a discrete perivascular lymphocytic infiltrate in the upper dermis and focal intraepidermal clusters of atypical lymphoid cells (Pautrier's microabscesses). PCR analysis of TCR-gamma gene disclosed a monoclonal T-cell rearrangement. Sequencing of the PCR monoclonal product identified the J(8)V(2)C(2) TCR gene rearrangement. This observation illustrates the existence of a peculiar and exceedingly rare form of mycosis fungoides characterized only by persistent pruritus unresponsive to several therapeutic approaches. The diagnostic difficulties of this rare variant are stressed.- - - - - - - - - - ranking = 2keywords = rate (Clic here for more details about this article) |
7/113. Florid opioid withdrawal-like reaction precipitated by naltrexone in a patient with chronic cholestasis.Findings consistent with the hypothesis that increased central opioidergic tone contributes to the pruritus of cholestasis provide a rationale for treating this form of pruritus with opiate antagonists. However, initiation of therapy with an opiate antagonist in a cholestatic patient may precipitate a transient opioid withdrawal-like reaction. A woman with chronic cholestasis and disabling pruritus experienced severe transient opioid withdrawal-like reactions after oral administration of 12.5 and 2 mg naltrexone. Subsequently, naloxone was administered by intravenous infusion. Initially, the infusion rate was low and subtherapeutic. It was gradually increased to a rate known to be effective in inducing opioid antagonism. Oral naltrexone was then reintroduced without any reaction occurring. During the ensuing 12 months, while taking naltrexone, 25 mg daily, the patient has been completely free from pruritus. These observations strongly support the hypothesis that increased central opioidergic tone is a component of the pathophysiology of cholestasis.- - - - - - - - - - ranking = 2keywords = rate (Clic here for more details about this article) |
8/113. Malrotation with recurrent volvulus presenting with cholestasis, pruritus, and pancreatitis.A patient aged 16 years was referred following numerous episodes of intense pruritus associated with persistently altered liver function tests. Ultrasound (US) demonstrated the superior mesenteric vein positioned more to the left than usual and abnormal orientation of the duodenum, consistent with a midgut malrotation. Endoscopic retrograde cholangiopancreatography the common bile duct, suggesting a malrotation with chronic or recurrent volvulus. A classic malrotation with 180 degrees volvulus was noted at operation. A second child previously thought to have recurrent idiopathic pancreatitis was noted to have ampullary distortion secondary to malrotation following presentation with an intestinal obstruction. pruritus and pancreatitis have not been previously reported with malrotation, although cholestatic jaundice has been described. The diffculties in diagnosis and the role of US are discussed. Ladd's procedure is the appropriate treatment for this condition.- - - - - - - - - - ranking = 1keywords = rate (Clic here for more details about this article) |
9/113. Generalized pruritic eruption with suprabasal acantholysis preceeding the development of bullous pemphigoid.We report a patient who presented with a papular pruritic eruption of a 3-month duration that histologically showed suprabasal acantholysis accompanied of an eosinophilic inflammatory infiltrate that was consistent with the diagnosis of Grover's disease. Later, erythematous plaques and vesicles appeared which showed a histopathological pattern of eosinophilic spongiosis. The direct immunofluorescence (DIF) study showed lineal IgG and C'3 at the dermal epidermal junction which was consistent with the diagnosis of bullous pemphigoid. No anti-intercellular deposits of immunoglobulin g (IgG) or C'3 were observed. We consider that suprabasal acantholysis may represent the early phase of bullous pemphigoid.- - - - - - - - - - ranking = 1keywords = rate (Clic here for more details about this article) |
10/113. Generalized pruritus without primary lesions. Differential diagnosis and approach to treatment.A 65-year-old man presented with recurrent generalized pruritus and excoriations of many years' duration. He had been treated with antihistamines, topical corticosteroids, and antibiotics for secondary wound infections, but improvement was only temporary. He had also been hospitalized for leg ulcers complicated by cellulitis. Examination revealed multiple oval and linear red papules and nodules measuring 0.5 to 2 cm in diameter. Some of the lesions were eroded and had a central crater and yellowish crust. The patient also had hypopigmented linear scars localized to the posterior scalp, neck, upper back, chest, abdomen, arms, and legs with sparing of the middle and lower back (figures 1 and 2). An ulcer measuring 1.5 x 2 cm that was surrounded by indurated skin was present on the medial aspect of his right ankle. The ulcer was partially covered by yellow exudate. There was no evidence of cellulitis. Liver enzyme, serum creatinine, and thyrotropin levels, as well as a chest roentgenogram, were normal. Wound cultures for bacteria and fungi were nonsignificant. A punch biopsy from a representative lesion showed an abrupt epidermal defect with sparse superficial lymphocytic infiltrate in the dermis. The patient was admitted to the hospital to isolate him from his home environment. He received a 10-day course of systemic cephalexin, topical clobetasol propionate ointment for the affected skin areas, and oral hydroxyzine for pruritus. Ultraviolet light therapy was instituted once daily and was to continue for 2 months. His lesions had improved moderately by the time he was discharged from the hospital. On follow-up 2 weeks later, his lesions were flat and had resulted in hypopigmented scars. Three months later, however, he had persistent, intense pruritus, and new excoriations had developed on his forearms and back. He improved after receiving treatment with oral doxepin hydrochloride.- - - - - - - - - - ranking = 4keywords = rate (Clic here for more details about this article) |
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