Bloom syndrome.

Bloom Syndrome (BS, MIM #210900) is an autosomal recessive genetic disorder caused by a mutation in the BLM gene, which codes for the DNA repair enzyme RecQL3 helicase. Without proper DNA repair mechanisms, abnormal DNA exchange takes place between sister chromatids and results in genetic instability that may lead to cancer, especially lymphoma and acute myelogenous leukemia, lower and upper gastrointestinal tract neoplasias, cutaneous tumors, and neoplasias in the genitalia and urinary tract. BS patients are usually of Ashkenazi Jewish descent and exhibit narrow facial features, elongated limbs, and several dermatologic complications including photosensitivity, poikiloderma, and telangiectatic erythema. The most concerning manifestation of BS is multiple malignancies, which require frequent screenings and strict vigilance by the physician. Therefore, distinguishing between BS and other dermatologic syndromes of similar presentation such as Rothmund-Thomson Syndrome, Erythropoietic Protoporphyria, and Cockayne Syndrome is paramount to disease management and to prolonging life. BS can be diagnosed through a variety of DNA sequencing methods, and genetic testing is available for high-risk populations. This review consolidates several sources on BS sequelae and aims to suggest the importance of differentiating BS from other dermatologic conditions. This paper also elucidates the recently discovered BRAFT and FANCM protein complexes that link BS and Fanconi anemia.

Purely cutaneous rosai-dorfman disease with immunohistochemistry.

BACKGROUND: The cutaneous form of Rosai-Dorfman disease (RDD) is a rare entity that manifests solely with skin papules or nodules and does not present with the usual myriad of symptoms of classical RDD. AIMS: To analyze the most recent publications regarding cutaneous RDD to point out updated, relevant aspects regarding future directions for clinical recognition and management. To identify histopathologic and immunohistochemical findings in skin lesions that permit diagnosis. MATERIALS AND METHODS: We present a case of a gentleman with a history of multiple lipomas with a new solitary nodule on physical exam; microscopic examination shows the typical findings of RDD with the associated diagnostic immunohistochemical profile, as well as the expected finding of histiocytes engulfing other intact inflammatory cells. RESULTS: Our patient was managed with surgical excision of the entire lesion, one of the several available treatment options. Long-term follow-up 2 years later did not reveal any complications, recurrences, or new lesions. CONCLUSION: The diagnosis of cutaneous RDD is differentiated from other histiocytic conditions by the combination of clinical findings accompanied by histopathologic and immunohistochemical confirmation.

Post-kala-azar dermal leishmaniasis in HIV-infected patients with AIDS: a report of two cases diagnosed in the USA.

BACKGROUND: Post-kala-azar dermal leishmaniasis (PKDL) is an uncommon complication of visceral leishmaniasis (VL) but is emerging as an increasingly frequent and serious complication of acquired immunodeficiency syndrome (AIDS). It manifests as a macular, morbilliform, or nodular eruption in a patient who has recovered from VL. METHODS: We present two cases of PKDL in the setting of AIDS. RESULTS: These two cases are notable because they demonstrate the severe course of VL, the rare appearance of PKDL in the U.S.A., and the recurrence of disease after >2 years of remission in the second case. Options for treatment include amphotericin B and pentavalent antimonials along with first-line antiretroviral therapy. CONCLUSIONS: The prevention of VL relapses, and the development of PKDL in HIV patients with Leishmania co-infection remains challenging. The vast differential diagnosis of other HIV-related cutaneous conditions, along with a lack of experience with this disease, often delays diagnosis. Therapeutic dilemmas concerning drug selection, dosage, scheduling regimen, and the respective durations of initial and maintenance therapy for PKDL need to be addressed. Treatment should aim to target the latent infection and prevent posttreatment VL relapses that may present in an unpredictable fashion. Leishmaniasis remains a recognized but uncommon opportunistic disease in the setting of HIV, which can be associated with atypical features including the appearance of skin lesions years after the treatment of VL.

Horizontal running mattress suture modified with intermittent simple loops.

Using the combination of a horizontal running mattress suture with intermittent loops achieves both good eversion with the horizontal running mattress plus the ease of removal of the simple loops. This combination technique also avoids the characteristic railroad track marks that result from prolonged non-absorbable suture retention. The unique feature of our technique is the incorporation of one simple running suture after every two runs of the horizontal running mattress suture. To demonstrate its utility, we used the suturing technique on several patients and analyzed the cosmetic outcome with post-operative photographs in comparison to other suturing techniques. In summary, the combination of running horizontal mattress suture with simple intermittent loops demonstrates functional and cosmetic benefits that can be readily taught, comprehended, and employed, leading to desirable aesthetic results and wound edge eversion.

Coma blisters in two postoperative patients.

Coma blisters are self-limited cutaneous bullae that occur in the setting of loss of consciousness because of a drug, illness, or accident, with the most common settings being barbiturate overdose and neurological disorders. The etiology behind coma blisters is poorly understood and is not related to underlying infections or autoimmune conditions. The clinical presentation consists of bullae, erosions, and violaceous plaques usually involving sites of pressure. The skin lesions usually occur within 48-72 hours of the start of a coma and resolve within 2-4 weeks. We present one case of a 5-month-old infant with severe valvular disease who required surgical repair. He was placed on extra corporeal membrane oxygenation and developed multiple tense coma blisters during the course of therapy. Skin biopsy revealed a noninflammatory subepidermal blister with necrosis of the overlying epidermis and necrosis of the eccrine ducts. We also present a second case of an 18-year-old female patient who underwent surgical resection of a benign mandibular tumor. She subsequently developed bullae on both arms 4 days after surgery. The skin biopsy showed a necrotic epidermis, a subepidermal blister, and diffuse necrosis of the eccrine coils.