Giant benign lymphangioendothelioma with positive expression of Wilms tumor 1: A case report.

Benign lymphangioendothelioma (BL, acquired progressive lymphangioma) is a rare, slow-growing lymphatic tumor, first described 40 years ago, with fewer than 50 published cases. Clinically, it presents as a skin-colored or erythematous patch. Definitive diagnosis requires histopathological examination. The immunohistochemical staining profile is still controversial regarding Wilms tumor 1 (WT1) expression, a marker of proliferative and neoplastic, rather than malformative nature. Here, we report a case of a 60-cm-long BL on the breast of an adult female. Biopsy revealed irregular vascular spaces dissecting the collagen bundles lined by swollen endothelial cells but without cellular atypia. Positivity for podoplanin (D2-40), CD31, and WT1 was observed, supporting the neoplastic nature of this lesion. Dermatologists and pathologists must be aware of this entity for early diagnosis and treatment.

Adult blaschkolinear acquired inflammatory skin eruption (BLAISE) with simultaneous features of lichen striatus and blaschkitis.

Blaschkitis and lichen striatus are generally distinguished in the literature by the age of onset, lesion distribution, and histopathology. However, there is currently no clear consensus among authors about whether to consider blaschkitis and lichen striatus different clinical entities or a spectrum ofthe same disease. We present a case of adult BLAISE with features of both lichen striatus and blaschkitis, which seems to support the theory that these clinical entities may in fact represent a spectrum of the same pathological process.

Superficial Acral Fibromyxoma: A Rare Soft Tissue Tumor.

Superficial acral fibromyxoma is a rare clinical entity, first described in 2001. It is a soft tissue tumor with a predilection for the fingers and toes. Since it was described, few cases have been reported. We present a case of an 88-year-old male with a history of a slow-growing lump in his left great toe after local trauma. The patient underwent surgical excision, and pathologic analysis revealed the diagnosis of superficial acral fibromyxoma. Although an unusual diagnosis, surgeons should be aware of this myxoid tumor, which requires complete surgical excision and short-term follow-up to detect recurrence.

Expanding the phenotype of IFAP/BRESECK syndrome: a new case with severe hypogammaglobulinemia.

The ichthyosis follicular with atrichia and photophobia syndrome (IFAP) is a rare X-linked multiple congenital malformation syndrome. Some male patients have additional features including brain anomalies, intellectual disability, ectodermal dysplasia, skeletal deformities, ear or eye anomalies and kidney dysplasia/hypoplasia (BRESEK syndrome) sometimes associated with Hirschsprung disease and cleft palate or cryptorchidism (BRESHECK syndrome). We report a 5 months-old male patient with the p.R429H mutation in MBTPS2 protein, which has been reported to be associated with the most severe phenotype of patients with IFAP/BRESHECK syndrome. This patient presented with a severe IFAP/BRESHECK phenotype including ichthyosis follicular, atrichia, photophobia, brain anomalies, global developmental delay, Hirschsprung disease and kidney hypoplasia. Additional features not previously reported in IFAP syndrome, include severe hypogammaglobulinemia and congenital rectourethral fistula.

Unknown: Pedunculated nodule on the foot. Eccrine poroma.

Eccrine poroma is a benign adnexal neoplasm composed of epithelial cells with poroid or distal ductal differentiation. We report a healthy 57-year-old woman with a 4-year history of an asymptomatic pedunculated nodule on the lateral border of the right foot that was proven to be an eccrine poroma by histopathologic examination.

Poststeroid panniculitis: a rare complication of systemic corticosteroid therapy.

We report a 9-month-old male patient with autoimmune enteropathy treated with intravenous methylprednisolone who developed firm, red, subcutaneous nodules 20 days after abrupt steroid interruption. The diagnosis of poststeroid panniculitis (PSP) was made based on clinical and histological grounds. PSP is an unusual complication of systemic corticosteroid therapy, which might occur following rapid steroid tapering or withdrawal. Physicians should be aware of this rare condition and distinguish it from other causes of erythematous subcutaneous nodules and plaques in children.

Granuloma faciale with subglottic eosinophilic angiocentric fibrosis: case report and review of the literature.

Granuloma faciale (GF) is an uncommon inflammatory dermatosis that usually presents on the face as reddish brown or violaceous papules and nodules that may coalesce into plaques. Eosinophilic angiocentric fibrosis (EAF) is a rare fibrosing condition that shares many histologic characteristics with GF and is regarded by some authors as a mucosal counterpart of GF. We present a case of GF with concurrent EAF in a subglottic location with excellent response to an intralesional corticosteroid on the GF lesion, CO2 laser on the EAF lesion, and oral dapsone treatment.

Acute hemorrhagic edema of childhood after H1N1 immunization.

Acute hemorrhagic edema (AHE) is an uncommon self-limited disorder affecting young children triggered by infection, drugs, or immunization. A 2-year-old boy was observed due to sudden onset of painful and edematous purpuric papular and plaque lesions of the face and upper extremities that started 2 weeks after H1N1 immunization. The patient also developed exuberant edema on the face and dorsum of the hands. Complete blood count, biochemistry, and urinalysis results were normal. Histopathological examination revealed perivascular and periadnexial lymphocytic infiltrate with neutrophils and eosinophils, and leukocytoclastic vasculitis. Blood PCR technique was negative to several viruses, namely adenovirus, cytomegalovirus, Epstein Barr, enterovirus, HHV6, parvovirus B19, and H1N1. Symptomatic treatment and parents reassurance was promptly provided. However, new lesions continued to develop and in this setting systemic corticosteroid was prescribed. Complete clinical resolution was achieved within 2 weeks and no relapse was observed. The temporal relationship with H1N1 immunization, absence of previous drug intake, as well as exclusion of viral infections led the authors to propose that H1N1 vaccine was the predisposing factor in AHE development in our patient. To our best knowledge, this is the first reported association between AHE and H1N1 immunization.

Leg ulcer and thigh telangiectasia associated with natural killer cell CD56(-) large granular lymphocyte leukemia in a patient with pseudo-Felty syndrome.

Clonal disorders of large granular lymphocytes (LGL) represent a rare spectrum of biologically distinct lymphoproliferative diseases originating either from mature T cells or natural killer cells. Both subtypes can manifest as indolent or aggressive disorders. We report a 77-year-old woman with rheumatoid arthritis, splenomegaly, and neutropenia who developed a painful leg ulcer refractory to treatment and thigh telangiectatic lesions. Because of the association of rheumatoid arthritis, splenomegaly, and nonspecific neutropenia, the diagnosis of Felty syndrome was initially made. Further investigation allowed the diagnosis of a CD56(-) natural killer-cell LGL leukemia and documented skin infiltration by natural killer cells. Cutaneous manifestations of LGL leukemia have been rarely reported. This report of pseudo-Felty syndrome with CD56(-) LGL leukemia, presenting with a leg ulcer and telangiectasia, enhances the role of dermatology in the diagnosis of hematologic neoplasia.

Myasthenia gravis thymus: complement vulnerability of epithelial and myoid cells, complement attack on them, and correlations with autoantibody status.

In early-onset myasthenia gravis, the thymus contains lymph node-type infiltrates with frequent acetylcholine receptor (AChR)-specific germinal centers. Our recent evidence/two-step hypothesis implicates hyperplastic medullary thymic epithelial cells (expressing isolated AChR subunits) in provoking infiltration and thymic myoid cells (with intact AChR) in germinal center formation. To test this, we screened for complement attack in a wide range of typical generalized myasthenia patients. Regardless of the exact serology, thymi with sizeable infiltrates unexpectedly showed patchy up-regulation of both C5a receptor and terminal complement regulator CD59 on hyperplastic epithelial cells. These latter also showed deposits of activated C3b complement component, which appeared even heavier on infiltrating B cells, macrophages, and especially follicular dendritic cells. Myoid cells appeared particularly vulnerable to complement; few expressed the early complement regulators CD55, CD46, or CR1, and none were detectably CD59(+). Indeed, when exposed to infiltrates, and especially to germinal centers, myoid cells frequently labeled for C1q, C3b (25 to 48%), or even the terminal C9, with some showing obvious damage. This early/persistent complement attack on both epithelial and myoid cells strongly supports our hypothesis, especially implicating exposed myoid cells in germinal center formation/autoantibody diversification. Remarkably, the similar changes place many apparent AChR-seronegative patients in the same spectrum as the AChR-seropositive patients.

Granulomatous slack skin.

Granulomatous slack skin is an extremely rare subtype of cutaneous T-cell lymphoma characterized by the slow development of folds of lax skin, especially in flexural areas and histologically characterized by a granulomatous infiltrate with clonal T cells. Notwithstanding its indolent behavior, treatment is often disappointing. We describe an additional case of this rare disorder in a 44-year-old male patient.

Anetoderma occurring after hepatitis B vaccination.

Anetoderma is an elastolytic disorder of unknown origin. To our knowledge, anetoderma secondary to hepatitis B immunization has been described only once in the literature, in two siblings vaccinated at the same time. We describe, what we believe to be an additional case of such a rare disorder in a 21-year-old man. He presented with white spots and papules on his neck, upper limbs and trunk, that had developed gradually within the last 6 years without any symptoms. The initial lesions were red macules, which gradually enlarged in size and number, becoming pale. Biopsy of a sack-like lesion revealed normal epidermis and a discrete mononuclear infiltrate throughout the dermis. Association of anetoderma with hepatitis B vaccination is speculated here, as suggested by history of vaccination two weeks prior to the onset of skin eruption and ruling out other possible causes of anetoderma.

Fewer thymic changes in MuSK antibody-positive than in MuSK antibody-negative MG.

In generalized myasthenia gravis (MG) patients without detectable acetylcholine receptor (AChR) antibodies (SNMG), the thymus is often reported as "normally involuted." We analyzed thymic compartments in 67 patients with generalized MG, with AChR antibodies (AChR+, n = 23), with muscle-specific kinase (MuSK) antibodies (MuSK+, n = 14) or with neither (MuSK-, n = 30), and in 11 non-MG controls. Four of 14 MuSK+ thymi had rare small germinal centers, but overall they were not different from age-matched controls. However, approximately 75% MuSK- samples showed lymph node-type infiltrates similar to those in AChR+ patients, but with fewer germinal centers. These variations may explain some apparent differences in responses to thymectomy in SNMG.

Atopic dermatitis-like non-erythrodermic leukemic variant of CD3(-/+dim) CD4(+) cutaneous T-cell lymphoma preceded by cutaneous papular xanthomatosis.

We report a patient with cutaneous papular xanthomatosis who 4 years later developed a CD3(-/+dim)/CD4(+) T-cell lymphoma. Pruritic xerotic non-erythrodermic skin, eosinophilia and hyper-IgE were present and erroneously classified as atopic dermatitis. Flow cytometry and DNA ploidy analysis of both blood and skin lymphocytes, skin histology and blood T-cell receptor gene rearrangement studies confirmed diagnosis of T-cell lymphoma. Monoclonal CD3(-/+dim)/CD4(+) T-cells were especially prone to the synthesis of IL-13, a cytokine that is involved in IgE-secretion, and comprised both a medium (diploid) and large (hyperploid) sized T-cell populations with a similar immunophenotype. The majority of the normal residual T-cells were large granular lymphocytes, expressed activation-related and natural-killer-associated markers and secreted high levels of interferon gamma, suggesting that they might correspond to active cytotoxic cells directed against the neoplastic T-lymphocytes.

Non-cytotoxic gamma-delta peripheral T-cell lymphoma affecting the mandibular and parotidal lymph nodes and the skin.

In contrast to the majority of alphabeta peripheral T cell lymphomas (PTCL), which usually originate in lymph nodes and do not express NK-associated molecules, most gammadelta PTCL express a cytotoxic phenotype and originate at extranodal sites. We report a case of a patient with a gamma-delta PTCL who presented with large mandibular and parotidal lymphadenopathy and skin lesions. CD3(+)/TCR-Vdelta1 (+) lymphoma cells did not express the cell surface (CD11b, CD11c, CD16, CD56 and CD57) and cytoplasmic granule molecules (Perforin and Granzyme B) that usually characterize the cytotoxic T-cells, a phenotype that fulfils the criteria for diagnosis of a rare non-cytotoxic variant of a gammadelta T-cell lymphoma. "In situ" hybridization for Epstein-Barr virus-encoded RNA and latent membrane protein-1 gave negative results. The disease had an aggressive course and was resistant to chemotherapy and the patient died 4 months after diagnosis.

Guess what: Chronic 13q14.3+/CD5-/CD23+ lymphocytic leukemia in blood and t(11;14)(q13;q32)+/CD5+/CD23- mantle cell lymphoma in lymph nodes!

We report a case of a patient with two B-cell lymphoproliferative disorders: CD5(-)/CD23(+) B-cell chronic lymphocytic leukemia and CD5(+)/CD23(-) mantle cell lymphoma. These disorders were diagnosed simultaneously based on flow cytometry, immunohistochemistry, fluorescence in situ hybridization, and polymerase chain reaction-based molecular studies. The B-cell lymphocytic leukemia clone predominated in the blood and bone marrow, whereas the mantle cell clone predominated in lymph nodes.