Disseminated Candida tropicalis presenting with Ecthyma-Gangrenosum-like Lesions.

Disseminated candidiasis in immunosuppressed patients has been classically associated with an erythematous papular eruption, however more severe presentations are possible. We present a patient who developed disseminated Candida tropicalis that presented with hemorrhagic bullae that progressed to large necrotic ulcers.

Recurrent Malignancy-Associated Atypical Neutrophilic Dermatosis With Noninfectious Shock.

Sweet syndrome (SS) or acute febrile neutrophilic dermatosis presents with the sudden onset of fever, leukocytosis and tender, erythematous, edematous, well-demarcated papules and plaques that histopathologically demonstrate a dense neutrophilic infiltrate. A total of 20% of patients with SS have malignancy-associated disease that can present with bullous or atypical skin lesions that mimic pyoderma gangrenosum, another neutrophilic dermatosis. Both entities exist on a spectrum, and in the context of underlying malignancy, these neutrophilic diseases become less clinically distinct. The literature also describes life-threatening cases of neutrophilic dermatoses that mimic severe sepsis. We present a fatal case of a patient with chronic eosinophilic leukemia with recurrent episodes of malignancy-associated atypical neutrophilic dermatosis characterized by necrotic skin lesions, pulmonary infiltrates and noninfectious shock and we also summarize the clinical presentations of an additional 10 patients reported in the literature. We conducted a PubMed search of articles published up to and in 2015, focusing on the English and Spanish literature with SS cross-referenced with the following search terms: neutrophilic dermatosis, pyoderma gangrenosum, shock, multiorgan failure and systemic inflammatory response syndrome. The articles were reviewed and the patients׳ clinical and laboratory findings were summarized. Cases of atypical neutrophilic dermatosis presenting with noninfectious shock syndrome are likely underrecognized clinically and underreported in the literature. Patients with malignancy-associated atypical neutrophilic dermatoses associated with noninfectious shock syndrome typically have multisystem disease characterized by recurrent episodes and typically have poor prognoses.

Identification of the Underlying Androgen Receptor Defect in the Dallas Reifenstein Family.

CONTEXT: The Dallas Reifenstein family - first described in 1965 - includes 14 known members with partial androgen insensitivity syndrome (PAIS). However, the underlying molecular defect was never identified. OBJECTIVE: To identify the underlying genetic defect for PAIS in the Dallas Reifenstein family. DESIGN: DNA was purified from scrotal skin fibroblasts, and whole exome sequencing was then performed in four affected men in the family. Additional family members - both affected and unaffected - were subsequently recruited to confirm segregation of the candidate mutations with the PAIS phenotype. PATIENTS: The affected men have PAIS with infertility associated with azoospermia, hypospadias, and gynecomastia. RESULTS: All four men harbored an intronic variant NC_000023.10:g.66788676A>C between exon 1 and exon 2 of the androgen receptor (AR) canonical transcript NM_000044 (complementary DNA position NM_000044: c.1616+22072A>C) predicted to cause an alternatively spliced AR transcript. Reverse transcription (RT) polymerase chain (PCR) experiments detected the predicted PCR product of the alternatively spliced AR transcript, and the mutation segregated with the PAIS phenotype in this family. The transcript includes the insertion of 185 nucleotides with a premature stop codon at chrX:66863131-66863133, likely resulting in a reduction in AR protein expression due to nonsense-mediated decay. CONCLUSIONS: An intronic AR mutation was identified in the Dallas Reifenstein family. The findings suggest that in cases of PAIS without identifiable AR mutations in coding regions, intronic AR mutations should be considered.