Grover disease and bullous pemphigoid: a clinicopathological study of six cases.

Grover disease (GD) is an idiopathic dermatosis that typically manifests as itchy papules over the trunk in middle-aged men. Bullous pemphigoid (BP) is an autoimmune bullous disease that affects older people. Not only are the two diseases easily distinguishable on clinical grounds, they are also characterized by differences in histopathology, pathogenesis and response to treatment Thus, the co-occurrence of these two conditions in the same patient is usually considered coincidental. In this report, we present a multicentre retrospective analysis of six patients who developed both GD and BP over a short period of time, and in all cases but one, GD preceded BP. We discuss the clinical and histopathological features of these patients, and the suggested mechanisms of the diseases. We conclude that GD might predispose to the development of BP.

Photosensitive atopic dermatitis--a neglected subset: Clinical, laboratory, histological and photobiological workup.

BACKGROUND: Photosensitive atopic dermatitis (PhAD) is a scarcely reported entity characterized clinically by a photodistributed rash in patients who fulfil the criteria for atopic dermatitis (AD). OBJECTIVES: The aim of this retrospective study is to define significant clinical, laboratory and immunological parameters as well as photobiological features for diagnosing PhAD. METHODS: We conducted a single-centre retrospective analysis of 17 patients with long-standing AD who in the disease course suddenly developed photosensitivity. All patients with suspected PhAD treated in our department between 2009 and 2014 were included in the study. Diagnostic methods were immunological parameters, prick and patch testing, histology and phototesting procedures. RESULTS: Onset of photosensitivity was observed during spring, summer and during exposure to artificial UVR (Ultraviolet radiation) as part of the patients' treatment regimen. Symptoms appeared 31.5 months on average after AD diagnosis was established. Although the MED (Minimal erythematous dose) was normal compared to a control group, all patients tested with photoprovocation methods exhibited a positive reaction. Two types of reactions were observed: papular and eczematous reactions, both types having similar histology. The wavelength spectrum most commonly involved was UVA. The disease seems to affect women more often than men. Predilection sites included face, neck, exposed trunk areas and arms. Patients with PhAD had coexistent eczematous lesions in non-sun-exposed skin. IgE levels were elevated in 11/17 patients (65%), with a median value of 269 kU/L. CONCLUSION: PhAD is an underreported subset of atopic dermatitis, which is rarely diagnosed. This study suggests that several features including atopic diathesis, eczematous lesions in UVR exposed body regions and positive photoprovocation reaction are suggestive of PhAD as the likely diagnosis. Typically, the atopic eczema starts without a sign of photosensitivity, however, in a subgroup of AD patients after a few months to years, a switch occurs leading to PhAD.

Pyoderma gangrenosum, acne and ulcerative colitis in a patient with a novel mutation in the PSTPIP1 gene.

BACKGROUND: Pyogenic sterile arthritis, pyoderma gangrenosum and acne (PAPA) syndrome is a rare hereditary, autosomal dominant, auto-inflammatory disease caused by mutations in the PSTPIP1 gene, which encodes proline-serine-threonine phosphatase interacting protein 1. The fact that PSTPIP1 is involved in immune regulation provides a rationale for treatment of this rare disease with interleukin (IL)-1 signalling blocking agents. AIM: We investigated a 33-year-old man with a long-standing history of ulcerative colitis, severe acne and recurrent skin ulcerations, and a 3-year history of a recalcitrant pustular rash. METHODS: We used direct sequencing to search for mutations in the PSTPIP1 gene. RESULTS: Examination of biopsies obtained from pustules and skin ulcers revealed folliculitis and ulceration with a diffuse neutrophilic dermal infiltrate, consistent with a diagnosis of pyoderma gangrenosum. Because of the known association of acne and pyoderma gangrenosum in PAPA syndrome, we determined the entire coding sequence of the PSTPIP1 gene, and identified a hitherto unreported heterozygous mutation predicted to alter a highly conserved residue (p.G403R) and to be damaging to the protein function. Based on this finding, we initiated treatment with a human IL-1 receptor antagonist, anakinra, which led to a dramatic improvement in the patient's condition. CONCLUSIONS: We describe a novel mutation in PSTPIP1 resulting in pyoderma gangrenosum, acne and ulcerative colitis. This novel constellation of clinical manifestations, which we term 'PAC syndrome', suggests the need to regroup all PSTPIP1-associated phenotypes under one aetiological group.

Rhabdomyosarcoma of the orbit in the newborn.

A full-term black boy had a 2- to 3-cm, round, bluish mass on his right lower eye-lid at birth, later diagnosed as rhabdomyosarcoma. It was cystic in nature and extended into the nasal cavity. The tumor was initially classified as neuroblastoma. The child died eitht months later and necropsy report confirmed an original ophthalmologic pathology diagnosis of embryonal rhabdomyosarcoma.