Kikuo Tsuchiya

Subcutaneous nodules on the buttocks as a manifestation of dialysis‐related amyloidosis: a clinicopathological entity?

Summary  While β2‐microglobulin amyloidosis occurring in patients undergoing long‐term dialysis is frequently associated with joint involvement, skin lesions have rarely been encountered. We report a 57‐year‐old man with extensive subcutaneous amyloid deposition forming large nodules on the buttocks; the patient had been on maintenance dialysis for 28 years. Although this condition is rare, a review of the literature indicates that the majority of such lesions occur around the buttock region.

Localized linear IgA/IgG bullous dermatosis.

Linear IgA/IgG bullous dermatosis (LAGBD) is an auto-immune blistering disease characterized by the local accumulation of IgA- and IgG-class anti-basement membrane autoantibodies. It typically presents as a generalized pruritic vesiculobullous eruption. No cases of localized LAGBD have yet been reported. We report a case of a 78-year-old man with LAGBD localized to the perianal area. The patient complained of suffering from persistent ulcers around the anus for more than 3 years. Physical examination revealed several blisters and ulcers up to 2-cm in diameter around the anus. No lesions were found elsewhere on the body. Histological analysis of a skin biopsy revealed subepidermal blistering, while direct immunofluorescence showed the linear deposition of IgA and IgG antibodies at the dermoepidermal junction. Indirect immunofluorescence of normal human skin whose layers had been separated using 1M NaCl showed the binding of both IgA and IgG to the epidermal side. Immunoblotting demonstrated the presence of circulating IgA and IgG autoantibodies that bound to a 120-kDa protein. This is the first case of localized LAGBD whose skin lesions were restricted to the perianal region.

Cutaneous Manifestations of Helicobacter cinaedi Infection

Helicobacter cinaedi causes gastroenteritis and bacter-aemia, particularly in immunocompromised individuals. Although cellulitis is sometimes reported to accompany infection by this pathogen, the cutaneous manifestations are poorly understood. To clarify the characteristic cutaneous features, 47 cases of H. cinaedi bacteraemia experienced at Sapporo City General Hospital as nosocomial infection were retrospectively evaluated. Thirty-four percent (16 cases) of the patients showed cutaneous lesions. They all had sudden onset of erythemas accompanied by high temperature. The most common cutaneous manifestations were found to be superficial cellulitis, which results in painful erythemas or infiltrated erythematous plaques on the extremities. These skin lesions can be an early clinical indicator of H. cinaedi bacteraemia in the setting of nosocomial infection.

Two cases of atypical melanocytic lesions in recessive dystrophic epidermolysis bullosa infants

Atypical melanocytic lesions (AtML) are known to be associated with epidermolysis bullosa (EB), mainly with the junctional subtype. We report two cases of AtML in two female infants with recessive dystrophic epidermolysis bullosa (RDEB). Both lesions were dark brown‐ to black‐coloured, asymmetric‐shaped macules, 3–4 cm in size, with an irregular border and were located on the forearms of two unrelated, 1‐year‐old female infants. On a clinical and pathological basis, the pigmented macules were diagnosed as AtML in EB patients. There are only a few reports describing in detail the clinical and histopathological features of AtML in RDEB, especially in infant cases. AtML may easily be misdiagnosed as malignant melanoma and, even in infant patients with RDEB, this should be included as one of the differential diagnosis of pigmented lesions.

Mucous membrane pemphigoid with generalized blisters: IgA and IgG autoantibodies target both laminin-332 and type XVII collagen.

Mucous membrane pemphigoid (MMP) is a mucous membrane‐dominated, subepidermal autoimmune blistering disease in which autoantibodies usually react with the C‐terminal domain of type XVII collagen (COL17) or with laminin‐332. Only a few cases of MMP with widespread blisters have been reported. Serologically, IgA and IgG class autoantibodies directed against COL17 or IgG autoantibodies directed against laminin‐332 in patients with MMP have been well documented. MMP cases in which IgA reacts with laminin‐332, however, are extremely rare. We report a case of MMP in a 67‐year‐old man. Clinical examination revealed extensive mucosal lesions as well as generalized blisters and erosions that healed with scar formation. The disease was intractable to treatment with systemic steroids. Interestingly, in addition to IgG directed against laminin‐332 and the noncollagenous 16A (NC16A) and C‐terminal domains of COL17, circulating IgA reacting with laminin‐332 and with the NC16A domain of COL17 was also detected. This is the first MMP case with circulating IgA and IgG autoantibodies against both laminin‐332 and COL17.

Unusual cutaneous features of syphilis in patients positive for human immunodeficiency virus

Dermatologists commonly find it difficult to diagnose syphilis, because of its protean clinical features. In cases of co‐infection with human immunodeficiency virus (HIV) syphilis may present particularly unusual clinical features, further confounding the diagnosis. We report two cases of syphilis/HIV co‐infection in Japanese patients showing uncommon skin features that made the diagnosis of syphilis difficult. These cases underline the need for dermatologists to be more aware of atypical cutaneous features of syphilis in patients positive for HIV.

Kindler Syndrome with Severe Intestinal Involvement: A 31-year Follow-up

Kindler syndrome (KS) is an autosomal recessive genodermatosis characterised by trauma-induced blistering, poikiloderma, mucosal inflammation and varying degrees of photosensitivity (1, 2). It is caused by mutations in FERMT1 (also known as KIND1), the gene encoding Kindlin1 (3, 4). More than 50 mutations have been reported to the Human Gene Mutation Database (HGMD® Professional Release 2012.4). In addition to the characteristic cutaneous features, KS patients occasionally have intestinal involvement, including diarrhoea or colitis, mainly in childhood (5, 6). However, severe intestinal complications of multiple ileal stenoses have seldom been described in KS patients, and it has remained unclear whether these are characteristics of KS or are coincidental. To further clarify the phenotype, genotype and FERMT1-expression of KS with severe intestinal involvement, we thoroughly evaluated a patient who has been carefully studied by dermatologists at a single institution for 31 years.