Yellow nail syndrome: not a genetic disorder? Eleven new cases and a review of the literature.

BACKGROUND: Yellow nail syndrome (YNS) is characterized by the triad of characteristic nail changes, chronic respiratory disorders and primary lymphoedema. Over 100 cases have been published, most of which have been sporadic. Despite this, YNS is classified as a dominantly inherited lymphoedema with variable expression. There have been only a few published reports where a positive family history (FH) has been documented in cases of YNS. OBJECTIVES: To conduct a retrospective survey investigating the genetic basis of YNS. METHODS: The notes of 11 patients diagnosed with YNS were examined for documentation of a positive FH, and in addition a postal questionnaire was sent to these patients. RESULTS: Only one of the 11 patients had a relevant FH. In addition, four patients had complete recovery of their nail changes. CONCLUSIONS: This is the first retrospective study of YNS to document clear remission of nail changes. The lack of a positive FH in the majority of patients in our study, the late onset of the disease and recovery of nail changes in our patients suggest that YNS may not be primarily a genetic disease as it is currently classified.

Paraneoplastic pemphigus associated with CD20-positive follicular non-Hodgkin's lymphoma treated with rituximab: a third case resistant to rituximab therapy.

Paraneoplastic pemphigus is an IgG-mediated disease characterized clinically by a polymorphous blistering eruption with severe mucosal involvement associated with an underlying or occult malignancy. It is associated with high mortality, and response to treatment is generally poor. Potent immunosuppression is often necessary to control progression of the disease. Three case reports have documented successful treatment of paraneoplastic pemphigus with rituximab, an anti-CD20 monoclonal antibody. However, two previous reports have noted that rituximab was unsuccessful in halting progression of PNP. We report a third case of paraneoplastic pemphigus associated with follicular non-Hodgkin's lymphoma in which rituximab was not effective. Whether rituximab is an effective and novel treatment for paraneoplastic pemphigus remains undecided.

Acquired reactive perforating collagenosis: four patients with a giant variant treated with allopurinol.

Reactive perforating collagenosis (RPC) is one of the four essential acquired perforating dermatoses. The condition is characterized by the transepidermal elimination of altered collagen. This paper describes four patients with a giant variant of RPC which has not previously been documented. Three of the patients had associated diabetes mellitus and one had chronic renal failure secondary to fetal scarring. Three of the four patients had a significant improvement in their lesions and symptoms following treatment with allopurinol.

Childhood cicatricial pemphigoid confined to the vulva.

Cicatricial pemphigoid or benign mucous membrane pemphigoid is an autoimmune bullous disease predominantly affecting the mucosal surfaces and healing with scar formation. Localized cicatricial pemphigoid of the vulva in children is rare. We present a child with this rare condition who was initially investigated on suspicion of her being subjected to child sexual abuse, and discuss its management.

Subcutaneous panniculitis-like T-cell lymphoma: a clinicopathological, immunophenotypic and molecular analysis of six patients.

BACKGROUND: Subcutaneous panniculitis-like T-cell lymphoma (SPTCL) is a rare cytotoxic T-cell lymphoma of the skin. In the World Health Organization classification of T-cell and natural killer cell lymphoma it is listed as an example of extranodal lymphoma. In practice, however, it is most likely to present to a dermatologist. OBJECTIVES: To describe the clinicopathological, immunophenotypic and molecular features of six U.K. patients with SPTCL. METHODS: The clinical, histological and immunophenotypic features were reviewed. T-cell receptor (TCR) gene analysis was performed on blood and tissue samples using polymerase chain reaction/single-strand conformational polymorphism analysis of the TCR-gamma gene using consensus primers. In situ hybridization was performed on lesional skin to detect mRNA for Epstein-Barr virus (EBV). RESULTS: All patients presented with subcutaneous nodules, plaques or ulceration, and three had systemic symptoms. All biopsies exhibited an infiltrate of medium to large pleomorphic cells involving the subcutis with characteristic rimming of fat spaces. Five showed areas of necrosis, but only one showed marked cytophagia. In three cases the neoplastic cells did not express TCR-beta. One was strongly p53 positive, and the other two were CD56 positive. Both these patients showed epidermal involvement with lichenoid changes histologically, and both developed the haemophagocytic syndrome. The other three cases were TCR-beta positive, CD8 positive and CD56 negative. All cases were positive with pan T-cell markers and also for the cytotoxic granule protein T-cell intracellular antigen-1 and granzyme B. All cases were EBV negative both by immunostaining (latent membrane protein-1) and by in situ hybridization (EBV-encoded mRNA). TCR gene analysis revealed a T-cell clone in four of five cases; two of these patients had an identical T-cell clone in the peripheral blood. The median survival was 16 months. However, two of the three TCR-beta-negative patients have died, whereas none of the TCR-beta-positive patients has died. CONCLUSIONS: This is the first series of SPTCL patients to be reported in the U.K. and the data support the view that there are two subsets of SPTCL: those derived from gammadelta T cells which carry a poor prognosis, and are usually CD56 positive, and a more indolent group derived from alphabeta T cells.