Pa-Fan Hsiao

NEMO Gene Mutations in Chinese Patients with Incontinentia Pigmenti

BACKGROUND/PURPOSE Incontinentia pigmenti is a rare, X-linked, dominant genodermatosis affecting skin, teeth, eyes, and central nervous system. Symptoms are associated with mutations in the nuclear factor-kappa B essential modulator (NEMO) gene on chromosome Xq28. Here, a subpopulation of Chinese patients with incontinentia pigmenti were examined to investigate the frequency and pattern of NEMO mutations, and to analyze their clinical features. METHODS From January 1996 to August 2006, 52 participants (21 probands and 31 family members) were screened for symptoms of incontinentia pigmenti and NEMO gene mutations. We designed a NEMO-specific PCR primer, referred to as In2S, to detect a deletion of exon 4-10 of the NEMO gene, which represents the mutation most frequently associated with incontinentia pigmenti. For participants without this deletion, all exons were sequenced to screen for other NEMO mutations. In addition, the clinical manifestations and family histories of the participants were analyzed. RESULTS Exon 4-10 was deleted in 13 probands, and one proband had a novel point mutation (G549C) in exon 5 that converted a glutamine to a histidine. Seven probands (33%) had no mutation in any of the exons of the NEMO gene. One of four participants who presented with hyperpigmentation also had the exon 4-10 deletion. One patient had a positive family history before the study took place, but no NEMO mutation was identified in any of the family members. Remarkably, the mothers of three of the probands exhibited the exon 4-10 deletion; however, their clinical manifestations were subtle and unrecognizable. CONCLUSION Mutational analysis of the NEMO gene was helpful in diagnosing incontinentia pigmenti among participants with a nearly normal phenotype or an incomplete form of the disease that only caused hyperpigmentation symptoms.

Unilesional folliculotropic/syringotropic cutaneous T-cell lymphoma presenting as an indurated plaque on the nape.

blunt dissection through a small hole (Fig. 1B). No evidence of recurrence or late complications was observed over 1 year. For schwannoma, excision is the treatment of choice and provides more complete removal of the tumor mass than any other treatment modality; however, large cosmetically unacceptable scars may result, with the possibility of a large amount of blood loss during surgical excision if the tumor mass is large and deeply located. The tumescent suction technique is a popular liposuction method using local anesthesia with direct infiltration of diluted anesthetic solution. It does not require general anesthesia and minimizes blood loss. In the tumescent suction technique, target tissues become swollen with a large amount of fluid (diluted anesthetic solution). Despite tissue swelling by local anesthesia, safety is guaranteed by the dilution effect. The tumescent suction technique has been applied in numerous dermatologic fields, including hair transplantation, laser skin resurfacing, and dermabrasion. It is a relatively safe and simple surgical technique with rapid wound healing. Although it has not been studied in detail for benign tumor removal, it may be applied to various tumors, including simple lipoma and well-encapsulated cutaneous schwannoma. To our knowledge, this is the first report of the application of the tumescent suction technique to treat schwannoma.

Subcutaneous panniculitis-like T-cell lymphoma presenting with clinicopathologic features of dermatomyositis

anti-transglutaminase 23.83 U/mL, anti-endomysium 1/10). The patient remained asymptomatic after 2 years of follow-up. HSP is one of the most common causes of leukocytoclastic vasculitis, occurring more frequently in winter and spring. Classic findings of HSP include non-thrombocytopenic palpable purpura, arthralgias, gastrointestinal disease, and glomerulonephritis. Purpura and joint pain are usually the initial symptoms. The rash often begins with erythematous, macular, or urticarial wheals on pressure-dependent areas. The wheals then coalesce and evolve into ecchymoses, petechiae, palpable purpura, and/or necrotic lesions. HSP is a disease of childhood, but has also been reported in adults. While the clinical manifestations of HSP are similar in both cases, adults have a higher incidence of necrotic lesions, significant renal involvement (approximately 30%), and concomitant malignancy. CD is a chronic immunomediated glutendependent enteropathy resulting from an inappropriate T-cellemediated immune response against ingested gluten in genetically predisposed persons. CD is associated with autoimmune skin disorders, including IgA-mediated dermatitis herpetiformis, and linear IgA bullous-dermatosis. While HSP is also an IgA-mediated skin disease, its associationwith CDhas been reported only once previously, but to our knowledge this is the first case in which a glutenfree diet is likely to have been effective to prevent HSP relapse. In conclusion, we describe the second report of the association between adult HSP and celiac disease.

Angioplasmocellular hyperplasia: A clinicopathologic study of 10 patients

BACKGROUND Angioplasmocellular hyperplasia is rarely reported. OBJECTIVE The purpose of this study is to describe and analyze the clinicopathologic features of angioplasmocellular hyperplasia. METHODS The records of 10 patients (mean age, 45 years; range, 17 to 71 years) with characteristic histologic features of angioplasmocellular hyperplasia were reviewed and the histopathologic findings, clinical features, and medical histories analyzed. Formalin-fixed, paraffin-embedded specimens were examined by immunohistochemical staining. RESULTS The most common clinical appearance was a single nodule with an erythematous rim. Histologically, the inflammatory infiltrate comprised mainly polyclonal plasma cells. There was vascular proliferation of capillaries and venules with varying numbers of plump endothelial cells. There were no definite predisposing factors. LIMITATIONS The number of cases was limited and all patients were Asian. CONCLUSIONS Angioplasmocellular hyperplasia had a distinct clinical appearance characterized by its inflammatory rim. The nature of the infiltrating cells and distribution of blood vessels indicates that it is a form of reactive plasmocytic inflammatory vascular hyperplasia.

Granulomatous slack skin presenting as acquired ichthyosis and muscle masses.

We describe a case of granulomatous slack skin in a 31-year-old woman with an unusual presentation of acquired ichthyosis and muscular masses involving four limbs over 3 years. Vesicles and ulcerative skin nodules first appeared only 3 months prior to diagnosis. The diagnosis was confirmed after sequential biopsies of muscle, skin lesions, and lymph nodes, together with molecular genetic studies. The patient responded poorly to various therapies, including thalidomide, and died of doxorubicin-related cardiomyopathy.