Acremonium mycetoma in a heart transplant recipient.

Mycetomas are chronic, progressive infections caused either by fungi (eumycetoma) or filamentous bacteria (actinomycetoma) and are characterized by the triad of draining sinuses, tumefaction, and the presence of macroscopic grains. We describe a case of eumycetoma in a cardiac transplant recipient caused by the soil saprophyte Acremonium species. This represents only the fifth case of eumycetoma reported in a solid organ transplant recipient. With the population of immunosuppressed patients and the incidence of invasive fungal infections increasing, consideration should be given to unusual saprophytic fungal infections as emerging opportunistic pathogens.

Bullous pyoderma gangrenosum as the presenting sign of fatal acute myelogenous leukemia.

Bullous pyoderma gangrenosum begins as a bulla, nodule or nonulcerated erythematous plaque that blisters or ulcerates to form a superficial ulcer surrounded by a hemorrhagic, bullous border, which is surrounded by a blue-gray halo. Bullous pyoderma gangrenosum is most commonly associated with hematologic malignancies, specifically, acute myelogenous leukemia (AML). We report a patient whose initial presentation with bullous pyoderma gangrenosum prompted the appropriate diagnostic evaluation and confirmation of AML, which was ultimately fatal. We emphasize that a thorough hematologic investigation, including bone marrow biopsy, should be performed in all patients who present with lesions clinically suggestive of bullous pyoderma gangrenosum because the skin lesion may be the only indicator of the underlying hematologic disorder.

Use of a skin-fat composite graft to prevent alar notching: an alternative to delayed postoperative repair.

BACKGROUND: Full-thickness defects of the alar rim can be challenging to repair and often require the use of multistaged interpolated flaps. Alar notching is a known complication of these procedures even after cartilage batten grafts have been placed to support the alar framework. Standard techniques for repair of alar notching involve reinsertion of a cartilage graft, usually at the time of alar groove reconstruction 3 months postoperatively. OBJECTIVE: We present a technique to prevent alar notching associated with nasolabial interpolation flaps. If early notching is noted at the time of pedicle division, preemptive placement of a skin-fat composite graft can obviate the need for additional procedures. METHODS: A case report detailing the procedure and a review of the options for repair of alar notching are provided. RESULTS. Placement of a skin-fat composite graft harvested from the divided pedicle flap resulted in correction of alar notching. CONCLUSION: This procedure is presented as an alternative to delayed cartilage grafting for repair of alar rim notching after placement of an interpolated pedicle flap. If notching is noted early, correction at the time of pedicle division allows for use of available tissue for composite grafting, avoidance of a delayed reconstructive procedure, and a good functional and cosmetic

Netherton syndrome with extensive skin peeling and failure to thrive due to a homozygous frameshift mutation in SPINK5.

BACKGROUND: Netherton syndrome (NTS) is a rare autosomal recessive multisystem disorder characterized by congenital erythroderma and ichthyosis, hair shaft abnormalities and immune dysregulation. The disorder is caused by deleterious mutations in the SPINK5 gene, encoding the serine protease inhibitor LEKTI. OBJECTIVE: Our objective was to investigate if the erythrodermic variant of peeling skin syndrome is also caused by SPINK5 mutations and to study the consequences of the disease on infantile brain development. METHODS: In an infant with extensive erythroderma, peeling skin and failure to thrive, we analyzed the SPINK5 gene for pathogenic mutations by direct DNA sequencing and performed repeated brain MRI studies with diffusion-weighted imaging. RESULTS: We identified a homozygous 4-base-pair insertion in exon 5 of SPINK5, which introduces a premature termination codon and appears to be a common mutation among West Indies islanders. MRI analyses revealed a persistent diffuse volume loss. CONCLUSION: Our results confirm that early truncation mutations of the coding sequence of SPINK5 produce a severe phenotype and that generalized peeling skin is one of the manifestations of NTS. We further demonstrate for the first time that NTS may be associated with MRI abnormalities indicative of a permanent tissue injury of the brain.

Cutis verticis gyrata in a patient with Noonan syndrome.

We report cutis verticis gyrata in a patient with Noonan syndrome. While cutis vertices gyrata has been shown to have a strong association with chromosomal abnormalities, especially Turner syndrome, this infant represents only the second reported instance of cutis verticis gyrata occurring in a patient with Noonan syndrome.

Germline fumarate hydratase mutations and evidence for a founder mutation underlying multiple cutaneous and uterine leiomyomata.

Multiple cutaneous and uterine leiomyomata syndrome (MCL) is an autosomal dominant disease characterized by the presence of concurrent benign tumors of smooth muscle origin (leiomyoma) in the skin and uterus of affected females, and in the skin of affected males. MCL can also be associated with type II papillary renal cell cancer (HLRCC). The genetic locus for MCL and HLRCC was recently mapped to chromosome 1q42.3-43 and subsequently, dominantly inherited mutations in the fumarate hydratase gene ( FH ) were identified. Importantly, analysis of the FH gene in tumors of MCL patients revealed a second mutation inactivating the wild-type allele in some tumors. Based on these findings, it has been suggested that FH may function as a tumor suppressor gene in MCL. Here, we report the analysis of the FH gene in a group of 11 MCL families, with the identification of 8 different mutations accounting for the disease in all families. One of the mutations, 905-1G>A, has been identified in 4 families of Iranian origin. The analysis of highly polymorphic markers in the vicinity of the FH gene showed a shared haplotype in these 4 families, suggesting that 905-1G>A represents a founder mutation. Collectively, identification of 5 novel and 3 recurrent mutations further supports the role of FH in the pathogenesis of MCL.

Pyomyositis.

Four patients were admitted to Columbia Presbyterian Medical Center for evaluation of lower extremity pain and swelling. Three patients were initially misdiagnosed with cellulitis and one patient underwent evaluation for dermatomyositis. After consultation by the dermatologist, a correct diagnosis of pyomyositis was made clinically and confirmed by imaging, surgery, or an interventional procedure. Wound, blood, and urine cultures were positive for methicillin-sensitive Staphylococcus aureus in 100%, 50%, and 25% of patients, respectively. After the appropriate diagnosis and treatment, all patients experienced rapid resolution of symptoms and a favorable outcome.

Mycobacterium abscessus cellulitis and multifocal abscesses of the breasts in a transsexual from illicit intramammary injections of silicone.

We report the case of a 29-year-old transsexual who developed Mycobacterium abscessus infection after receiving intramammary liquid silicone injections in the nonphysician office setting. Our patient represents 1 of 14 confirmed and 11 suspected cases in New York City of M abscessus infection after illicit cosmetic procedures. As injectable cosmetic procedures are becoming increasingly popular, dermatologists should be aware of both the common and unusual complications. Furthermore, all physicians should be alerted to the current cluster of M abscessus infections after injections for cosmetic purposes by nonmedical practitioners in New York City.

Modulation of linear nail growth to treat diseases of the nail.

Diseases affecting the nail can cause significant distress and interfere with an individual's self-esteem, personal relationships, and professional life. Often, hand and foot function is adversely affected. Certain diseases are characterized by accelerated nail growth while others show a decrease. In this review, drugs known to influence the growth rate of nails are examined, highlighting their potential use as adjunctive therapy in the treatment of nail disease. This approach, described recently in the context of the yellow nail syndrome,(1) may be extended to other common disorders such as nail psoriasis, brittle nails, and onychomycosis.

Vesicular pemphigoid in a 16-year-old boy.

We describe a case of a 16-year-old African-American boy with bullous pemphigoid (BP), an acquired autoimmune blistering disease that is rarely seen in children. The patient's lesions, however, were distinctly herpetiform, complicating initial diagnosis and therapy. A diagnosis of BP was made by direct and indirect immunofluorescence. Immunoblotting and enzyme-linked immunosorbent assay analysis confirmed the presence of autoantibodies directed against the BP180 antigen. The autoantibodies reacted with the same epitopes within the immunodominant BP180 NC16A domain that have previously been shown to be the target of autoantibodies in BP. This case describes an uncommon disease in the pediatric population and should be included in the differential diagnosis in young patients with an unusual generalized vesicular eruption.