Generalized verrucosis in a patient with GATA2 deficiency.

Generalized verrucosis is a characteristic of several genetic and immunodeficiency disorders including epidermodysplasia verruciformis; warts, hypogammaglobulinaemia, infections and myelokathexis (WHIM) syndrome; warts, immunodeficiency, lymphoedema and anogenital dysplasia (WILD) syndrome; severe combined immune deficiency and HIV, among others. In recent years, it has been consistently recognized in patients with GATA2 deficiency, a novel immunodeficiency syndrome characterized by monocytopenia, B-cell and natural killer-cell lymphopenia, and a tendency to develop myeloid leukaemias and disseminated mycobacterial, human papillomavirus (HPV) and opportunistic fungal infections. Mutations in GATA2 cause haploinsufficiency and track in families as an autosomal dominant immunodeficiency. GATA2 is a transcription factor involved in early haematopoietic differentiation and lymphatic and vascular development. We describe a case of generalized verrucosis with HPV type 57 presenting in a young man with GATA2 deficiency. GATA2 deficiency is a novel dominant immunodeficiency that is often recognized later in life and should be considered in the differential diagnosis of patients with generalized verrucosis.

Periumbilical parasitic thumbprint purpura: strongyloides hyperinfection syndrome acquired from a cadaveric renal transplant.

Periumbilical parasitic thumbprint purpura may be a presenting sign of hyperinfection strongyloidiasis in the immunocompromised host. We report a case of fatal hyperinfection strongyloidiasis acquired from a cadaveric renal allograft, diagnosed by the pathognomonic periumbilical thumbprint purpuric eruption, confirmed by skin biopsy and laboratory testing.

Fatal disseminated Acanthamoeba infection in a liver transplant recipient immunocompromised by combination therapies for graft-versus-host disease.

Immunosuppressed solid organ transplant recipients are at increased risk for acquisition of opportunistic pathogens, with potentially fatal consequences. With the introduction of novel immunosuppressive agents used to prevent organ rejection and to treat the sequelae of transplantation, severity and rates of infection with unusual opportunistic pathogens may increase. Various monoclonal antibodies are now being used in the treatment of severe, acute graft-versus-host disease (GVHD), including rituximab, daclizumab, and alemtuzumab. These therapies, particularly when used in combination and with other traditional forms of immunosuppression, may have profound effects on the immune system. Acanthamoeba species are ubiquitous, free-living protozoa that rarely cause disseminated disease in the immunocompromised host. We report a fatal case of disseminated Acanthamoeba infection with a dramatic cutaneous presentation in a liver transplant recipient severely immunocompromised by sequential standard and novel therapies used to successfully treat life-threatening acute GVHD. This case illustrates the current major limitation of these therapies, discusses the cutaneous findings in disseminated acanthamoebiasis, and highlights the need to maintain vigilance for the presence of unusual infection in patients receiving similar therapeutic regimens.

Genetics of skin appendage neoplasms and related syndromes.

In the past decade the molecular basis of many inherited syndromes has been unravelled. This article reviews the clinical and genetic aspects of inherited syndromes that are characterised by skin appendage neoplasms, including Cowden syndrome, Birt-Hogg-Dube syndrome, naevoid basal cell carcinoma syndrome, generalised basaloid follicular hamartoma syndrome, Bazex syndrome, Brooke-Spiegler syndrome, familial cylindromatosis, multiple familial trichoepitheliomas, and Muir-Torre syndrome.

Identification of mutations in the COL7A1 gene in a proband with mild recessive dystrophic epidermolysis bullosa and aortic insufficiency.

We report the clinical and molecular findings in a patient with a mild form of recessive dystrophic epidermolysis bullosa and aortic insufficiency. To our knowledge, this is the first report of association between dystrophic epidermolysis bullosa and abnormalities of the aortic valve. Analysis of the COL7A1 gene has revealed two new mutations, a 20-bp duplication and a splice site mutation.

Concurrent herpes simplex type 1 and varicella-zoster in the V2 dermatome in an immunocompetent patient.

A unique feature of herpesviruses is their ability to establish latent infection within the nervous system by colonizing peripheral sensory ganglia, which results in subsequent episodic outbreaks of infection triggered by precipitating events. Despite the latent nature of both herpes simplex virus type 1 (HSV-1) and varicella-zoster virus (VZV) within these sensory ganglia, simultaneous outbreaks of these viruses are uncommon. This is generally attributed to the differing reactivation features of these 2 viruses. Four cases of concurrent HSV-1 and VZV infection are described in the literature. We report concurrent infection of HSV-1 and VZV within the same V2 dermatome in an immunocompetent patient.

Kwashiorkor in patients with AIDS.

Kwashiorkor, a form of severe protein-energy malnutrition that entails loss of lean body weight, occurs endemically among children in many parts of the world but also has been documented in adults. We report a case of kwashiorkor in an HIV-positive adult male. Cutaneous findings are striking, and skin, hair, and nails are affected. Although kwashiorkor occurs in patients with HIV-AIDS, the skin manifestations have not been emphasized in the dermatologic literature. Indeed, dermatologists may play a vital role in diagnosing this treatable condition.

Eyelash hypertrichosis in a patient treated with topical latanoprost.

We describe a female patient with a history of primary open-angle glaucoma who, following treatment with topical latanoprost, a synthetic prostaglandin F2 alpha analog, developed hypertrichosis of the eyelashes. Hypertrichosis, a recently described side effect of latanoprost--together with iridal pigmentation--represents a potentially permanent cosmetic side effect associated with the use of this highly effective intraocular pressure-lowering agent. The molecular mechanism underlying latanoprost-induced hypertrichosis is unknown.

Recurrent lumbosacral herpes simplex in the bedridden hospitalized patient.

A clinical variant of genital herpes simplex virus (HSV) infection, recurrent lumbosacral HSV, occurs in bedridden hospitalized patients. We want to call attention to an uncommon pattern of HSV infection in the hospitalized bedridden patient seen by the dermatology consultation service in a large university hospital. HSV is characterized by a mixture of recurrent groups of herpetic vesicles in all stages of development, with multiple, persistent hyperpigmented patches bilaterally distributed over the lumbosacral (buttocks) area.

Surgical management of pyoderma gangrenosum: case report and review.

BACKGROUND: Commonly used treatments for pyoderma gangrenosum are medical, with immunosuppressive agents employed most often. OBJECTIVE: To report a case and discuss the indications for radical surgical treatment of pyoderma gangrenosum. METHODS: Analysis of a case of Crohn's disease-associated pyoderma gangrenosum treated with immunosuppression followed by amputation, and a review of the literature on surgical management of pyoderma gangrenosum. RESULTS: In unstable patients with intractable multiple medical problems, surgical treatment of pyoderma gangrenosum may be indicated by the existence of these life-threatening comorbidities. The recent literature suggests that surgical management of pyoderma gangrenosum may also be appropriate in other special circumstances. CONCLUSIONS: Surgical management, including amputation, may have a role in the management of pyoderma gangrenosum. Further research is needed to delineate precisely the circumstances and patient factors that are appropriate indications for such surgery.

Palatal necrosis in an AIDS patient: a case of mucormycosis.

We report a case of rhinocerebral mucormycosis presenting in a patient with AIDS and review the literature on mucormycosis occurring in the setting of HIV disease. Mucormycosis in HIV is rare. However, it can be the presenting opportunistic infection in AIDS. Predisposing factors for Mucor infection in HIV disease include low CD4 count, neutropenia, and active intravenous drug use. Mucormycosis can present in the basal ganglia, the skin, the gastrointestinal tract, the respiratory tract, or may be disseminated. The disease may develop insidiously or may progress rapidly with a fulminant course. Therapy usually consists of surgical debridement/excision accompanied by intravenous amphotericin B.

Epidermolytic hyperkeratosis in a Hispanic family resulting from a mutation in the keratin 1 gene.

Epidermolytic hyperkeratosis (EHK; bullous congenital ichthyosiform erythroderma) is a genodermatosis resulting from mutations in either the keratin 1 (K1) or keratin 10 (K10) genes. It is characterized by erythroderma and blistering at birth, and the development of ichthyotic hyperkeratosis and palmoplantar keratoderma. A wide variety of mutations within the highly conserved helix initiation and termination motifs of the central rod domains of the K1 or K10 genes correlate with the highly variable phenotypic severity observed in EHK. We report a novel missense mutation designated L214P in a large Hispanic pedigree with EHK. The mutation is located in the highly conserved 1A segment of the alpha-helical rod domain. The presence of this mutation underscores the importance of sequence alterations located in the central rod domain in the pathogenesis of EHK.

Epidermolytic palmoplantar keratoderma in a Hispanic kindred resulting from a mutation in the keratin 9 gene.

Epidermolytic palmoplantar keratoderma (EPPK) is a localized keratinization disorder caused by mutations in the highly conserved coil 1A domain of the keratin 9 gene, KRT9. We present a Hispanic pedigree spanning three generations, with affected individuals in all generations. Using polymerase chain reaction amplification and direct sequencing we demonstrated a previously reported missense mutation in KRT9, which is expressed almost exclusively in the skin of palms and soles. The C-->T missense mutation R162W changes a basic amino acid (arginine) to a neutral amino acid (tryptophan). We describe this mutation in a Hispanic pedigree with EPPK for the first time, extending the finding of this mutation in other genetic backgrounds, and demonstrating the prevalence of this mutation in diverse populations.

Transverse leukonychia with systemic infection.

Transverse white nail bands (leukonychia) have been described in association with systemic illnesses and exposure to toxins, and medications. We describe the occurrence of transverse nail bands in two patients following acute systemic illnesses. In the first case, transverse white nail bands developed in a 30-year-old human immunodeficiency virus-positive man following acute pulmonary tuberculosis. In the second case, transverse white nail bands were noted in an 80-year-old patient following Streptococcus intermedius empyema.