An immunohistochemical study of angiokeratomas of children.

BACKGROUND: Angiokeratomas are vascular anomalies in which the clinical, histological, and immunohistochemical characteristics are insufficient to determine whether the lesion is a vascular neoplasm or vascular malformation, and their exact origin is also uncertain. To further clarify the nosology of angiokeratomas, we studied 14 cases. OBJECTIVE: To analyze immunohistochemical characteristics of angiokeratomas to gain further insight into its histogenesis. METHODS: We carried out a retrospective review of the histopathology files. Immunohistochemical expression for Wilms tumor 1 (WT1), GLUT1, D2-40, podoplanin, Prox1, and ERG1 was performed in 14 cases. RESULTS: None of the lesions showed cytoplasmic immunoreactivity for WT1. GLUT1 resulted to be negative in 13 cases. All 14 cases in our series showed some expression with at least 1 lymphatic marker. In 12 cases, the positivity was diffuse and strong for ERG1. CONCLUSIONS: Angiokeratomas are complex lesions with difficult classification. Angiokeratomas are best considered vascular malformations in children, according to the WT1-negative stain. The lymphatic component of angiokeratoma is demonstrated by positivity and/or focal expression for lymphatic markers (podoplanin and Prox1); however, a blood capillary component within the malformation cannot be excluded.

An immunohistochemical study of verrucous hemangiomas.

BACKGROUND: According to the International Society for the study of vascular Anomalies, vascular anomalies are classified as vascular neoplasms and vascular malformations. In some vascular lesions, categorization as a neoplasm or malformation has not been established with confidence so far. In order to further clarify the nosology of verrucous hemangioma, we studied 13 cases. OBJECTIVE: To analyze immunohistochemical characteristics of verrucous hemangiomas in order to gain further insight in its histogenesis. METHODS: We carried out a retrospective review. Immunohistochemical expression for Wilms tumor 1 (WT1), Glut-1 and D2-40 was performed in 13 cases. RESULTS: Immunohistochemistry performed with Glut-1 and WT1 showed positive staining in all lesions. All verrucous hemangiomas lacked D2-40 immunostaining. CONCLUSIONS: This is the first report in the literature investigating WT1 in verrucous hemangioma in order to further clarify the nosology of this vascular anomaly. Despite the clinical features of verrucous hemangioma, which are similar to those seen in vascular malformations, verrucous hemangioma exhibited an immunoprofile similar to vascular neoplasms, according to WT1 and Glut-1 positivity.

Hobnail hemangioma reclassified as superficial lymphatic malformation: a study of 52 cases.

BACKGROUND: Hobnail hemangioma (HH) is currently classified as a benign vascular tumor, although it is not well understood whether this lesion differentiates toward blood or lymphatic endothelial cells. Immunostaining with the endothelial marker Wilms tumor 1 (WT1) helps distinguish between vascular neoplasms and malformations, being positive in the former and negative in the latter. OBJECTIVE: We sought to investigate WT1, human herpesvirus 8 latent nuclear antigen, D2-40, and Ki-67 immunoprofile in HH, to gain further insight into its histogenesis. METHODS: We evaluated 52 HHs collected in Dermatohistopathologische Gemeinschaftslabor, Friedrichshafen, Germany. Immunohistochemical expression of WT1 was performed in all cases. Ten of 52 lesions were also studied for D2-40 and Ki-67 staining and 12 lesions were stained for human herpesvirus 8 latent nuclear antigen. RESULTS: All 52 HHs were completely negative for WT1 immunostaining. Immunohistochemistry performed in 10 HHs showed diffuse and strong positive staining for D2-40 in 8 lesions and focal positivity in two. All cases tested showed negative staining for Ki-67 and human herpesvirus 8 latent nuclear antigen. LIMITATIONS: There are no limitations. CONCLUSIONS: Although the exact histogenesis of HH is unknown, most of the performed immunohistochemical studies support a lymphatic line of differentiation. However, on the basis of the WT1 negativity, we believe that HH is better considered as a lymphatic malformation rather than a lymphatic neoplasm.

Microvenular hemangioma-an immunohistochemical study of 9 cases.

Microvenular hemangioma (MH) is a rare benign acquired vascular neoplasm, which can be clinically and histologically misdiagnosed with other vascular lesions. Immunohistochemistry studies in MH are lacking. The aim of this study is to investigate the immunoprofile of MH and gain further insight in its histogenesis. We evaluated 9 cases of MH. Immunohistochemical expression of WT1, GLUT-1, and D2-40 was performed in all cases. All 9 MHs resulted completely positive for WT1 immunostaining. Immunohistochemistry performed in all 9 MH cases showed negative staining for GLUT-1 and D2-40. We added further support to the importance of WT1 as a useful tool in the diagnosis of vascular neoplasms. D2-40 negativity in all tested lesions implied that MH does not exhibit a lymphatic differentiation. GLUT-1, which is characteristically positive in infantile hemangioma and verrucous hemangioma, showed to be negative in MHs.

Wilms tumor 1 expression in vascular neoplasms and vascular malformations.

BACKGROUND: Wilms tumor 1 (WT1) protein is expressed during angiogenesis and malignant transformation of endothelial cells and can be helpful to distinguish between proliferative and malformative vascular lesions. METHODS: We evaluated retrospectively 117 vascular neoplasms and 50 vascular malformations. Vascular neoplasms included infantile hemangioma (n = 87), noninvoluting congenital hemangioma (n = 5), rapidly involuting congenital hemangioma (n = 3), tufted angioma (n = 8), pyogenic granuloma (n = 13), and spindle cell hemangioma (n = 1). Vascular malformations were lymphatic malformations (n = 28), venous malformations (n = 16), capillary malformation (n = 1), and stage II arteriovenous malformations (n = 5). Immunohistochemical stains for WT1 and GLUT1 were performed in all lesions. RESULTS: All 117 vascular neoplasms showed positive expression of WT1, whereas all vascular malformations in our study were completely negative for WT1 except in arteriovenous malformations, where WT1 expression was positive. CONCLUSIONS: The comparison between vascular neoplasms and vascular malformations showed that GLUT1 expression is positive only in infantile hemangiomas, whereas WT1 positivity is found in all vascular neoplasms and in arteriovenous malformations. WT1 antibody is an ancillary test that can be helpful to differentiate vascular neoplasms from most vascular malformations.

Bathing suit ichthyosis.

Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive lamellar ichthyosis due to transglutaminase-1 (TGase-1) gene mutations leading to a temperature sensitive phenotype. It is characterized by dark-grey or brownish scaling restricted to the 'bathing suit' areas, whereas the extremities and central face are almost completely spared. We report a 2-year-old African girl with BSI with ultrastructural and biochemical demonstration of TGase-1 deficiency over the affected skin. TGase-1 gene analysis disclosed the homozygous p.R315L mutation, which may lead to a temperature sensitive dysfunction of the enzyme.

Pseudo-Kaposi's sarcoma because of suction-socket lower limb prosthesis.

Pseudo-Kaposi sarcoma is a benign reactive vascular proliferation mainly involving the lower legs, which can be related to acquired chronic venous insufficiency or congenital arteriovenous malformations. In its most common presentation, acroangiodermatitis is seen in patients with chronic venous insufficiency of the lower limbs as an exaggeration of the stasis dermatitis. However, rare reports of acroangiodermatitis include descriptions in amputees (especially in those with poorly fitting suction-type devices), in patients undergoing hemodialysis (with lesions developing distally to arteriovenous shunts) and in patients with paralyzed legs. We report on a 28 year-old-male who presented pseudo-Kaposi's sarcoma in an amputation stump because of suction-socket lower limb prosthesis.

Giant angiolymphoid hyperplasia with eosinophilia on the chest.

Angiolymphoid hyperplasia with eosinophilia is a rare vascular proliferation characterized by single or multiple purplish, brownish papules and subcutaneous nodules, sometimes associated with pain or pruritus. This rare benign process occurs with a female predominance. Approximately 85% of the lesions occur in the skin of the head and neck; most of them are around the ear or on the forehead or scalp. Whether angiolymphoid hyperplasia with eosinophilia represents a benign neoplasm or an unusual reaction to varied stimuli, including trauma, the etiology remains unclear. Histopathologically, the lesions consist of a proliferation of blood vessels of variable size lined by large epithelioid endothelial cells and a variable inflammatory infiltrate of lymphocytes and eosinophils, sometimes with lymphoid follicle formation. The lesion is benign but may be persistent and is difficult to eradicate. We report on a case of a 58-year-old Caucasian man who presented a purplish pink dome-shaped tumor of size up to 8 cm in diameter located on the chest. We emphasize this case considering the unusual dimensions of the lesion (8 cm diameter) and the atypical location on the chest.

Vasculitis in erythema induratum of Bazin: a histopathologic study of 101 biopsy specimens from 86 patients.

BACKGROUND: Erythema induratum of Bazin is a mostly lobular panniculitis. There is considerable controversy in the literature about whether or not vasculitis is a histopathologic requirement to establish the diagnosis of erythema induratum of Bazin. Even accepting vasculitis as a histopathologic criterion, there is no agreement about the nature and size of the involved vessels. OBJECTIVE: The main goal of our study was to investigate whether or not vasculitis was present in a large series of cases of erythema induratum of Bazin and, when vasculitis was found, to determine the nature and localization of the involved vessels. METHODS: We studied 101 skin biopsy specimens from 86 patients with clinicopathologic diagnosis of erythema induratum of Bazin. Histopathologic criteria required in each case to be included in this study were: (1) a mostly lobular panniculitis with necrotic adipocytes at the center of the fat lobule; (2) inflammatory infiltrate within the fat lobule mostly composed of neutrophils in early lesions and granulomatous infiltrate in fully developed lesions; (3) significant fat necrosis; and (4) absence of other histopathologic findings that allow a specific diagnosis of other lobular panniculitis different from erythema induratum of Bazin. We also recorded the nature of the inflammatory cells involving the fat lobule, and the lesions were classified into two main categories: (1) early lesions, when the inflammatory infiltrate was mainly composed of neutrophils, with or without leukocytoclasis; and (2) fully developed lesions, when histiocytes and lipophages were the predominant inflammatory cells within the involved fat lobule. RESULTS: Some type of vasculitis was evident in 91 cases (90.09%). A total of 47 biopsy specimens (46.5%) showed a mostly lobular panniculitis with necrotizing vasculitis involving the small vessels, probably venules, of the center of the fat lobule. Thirteen biopsy specimens (12.8%) showed a mostly lobular panniculitis with vasculitis involving both large septal veins and small vessels, probably venules, of the center of the fat lobule. Twelve biopsy specimens (11.8%) showed a mostly lobular panniculitis with vasculitis involving large septal veins, with no involvement or other septal or lobular vessels. Ten biopsy specimens (9.9%) showed a mostly lobular panniculitis with vasculitis involving large septal vessels, both arteries and veins, and necrotizing vasculitis involving the small vessels, probably venules, of the center of the fat lobule. Nine biopsy specimens (8.9%) showed a mostly lobular panniculitis with vasculitis involving large septal vessels, both arteries and veins, but with no involvement of the small blood vessels of the center of the fat lobule. Finally, 10 biopsy specimens (9.9%) showed a mostly lobular panniculitis without evidence of septal or lobular vasculitis in serial sections. Associated diseases included history of extracutaneous tuberculosis (including tuberculosis of the lung, lymph nodes, kidney, or bowel) in 12 cases (13.95%), previous episodes of superficial thrombophlebitis of the lower legs in 3 cases (3.72%), rheumatoid arthritis in one case (1.16%), Crohn disease in one case (1.16%), chronic lymphocytic leukemia in two cases (2.32%), hypothyroidism in two cases (2.32%), and positive serology for hepatitis B virus in 4 cases (4.65%) and for hepatitis C virus in 5 cases (5.81%). LIMITATIONS: Serial sections were not performed in all cases. At least 10 sections were studied in each case. When vasculitis was evident in some of these first 10 sections, no further sections were cut, but when histopathologic features of vasculitis were not found in the first 10 sections, serial sections throughout the specimen were performed looking for vasculitis. Because some type of vasculitis was evident in the first 10 sections of 91 cases, serial sections were performed only in the remaining 10 cases and they failed to demonstrate clear-cut histopathologic features of vasculitis. On the other hand, this is a retrospective study that was performed from the histopathologic slides of our files, and only the clinical information contained in the report accompanying the biopsy specimen could be recorded. CONCLUSIONS: In our experience, vasculitis is present in most lesions of erythema induratum of Bazin, and the nature, location, and size of the involved vessels is, from more to less frequent, as follows: (1) small venules of the fat lobule; (2) both veins of the connective tissue septa and venules of the fat lobule; (3) only veins of the connective tissue septa; (4) veins and arteries of the connective tissue septa and venules of the fat lobule; and (5) veins and arteries of the connective tissue septa. However, in some cases with all clinicopathologic features of erythema induratum of Bazin vasculitis could not be demonstrated with serial sections throughout the specimen and, therefore, the presence of vasculitis should be not considered as a criterion sine qua non for histopathologic diagnosis of erythema induratum of Bazin.

Hand-foot syndrome with sclerodactyly-like changes in a patient treated with capecitabine.

Capecitabine, a fluoropyrimidine carbamate with antineoplastic activity, is an oral agent that was developed as a prodrug of 5-fluorouracil and is used in the treatment of metastatic colorectal and breast cancers. Multiple cutaneous adverse effects had been described with the use of this drug, but to our knowledge, specific association with capecitabine and hand-foot syndrome with sclerodactyly-like changes has been described only once. We report a patient with a colon adenocarcinoma who presented with hand-foot syndrome, with sclerodactyly-like changes induced by capecitabine.

Facial scars after a road accident: combined treatment with PDL and Q-switched ND:YAG laser.

We report the case of a woman who presented with several facial scars following a road accident. Treatment was carried out using combined laser treatment with pulsed dye laser (PDL) and the Q-switched neodymium:yttrium-aluminum-garnet laser (QS Nd:YAG laser). No side effects or complications from treatment were noted or reported. The patient had very good cosmetic results with this combined technique. A variety of facial scars--erythematous, pigmented, atrophic and hypertrophic--may occur as a result of trauma, surgery, burns and skin disease. Surgery with other adjunctive methods including radiotherapy, intralesional steroids and pressure therapy has shown variable results. Laser treatment has been attempted for scar revision since the 1980s. The PDL is the optimal treatment for reducing scar bulk and symptoms. It also decreases the erythema and telangiectasia associated with scars, normalizes the skin surface texture and improves scar pliability. The QS Nd:YAG laser (1064 nm) is highly effective for traumatic tattoo removal, resulting in complete clearance in the majority of cases.

[Behçet's disease - Infliximab in the treatment of mucocutaneous manifestations]. / Doença de Behçet - infliximab no tratamento das manifestações mucocutâneas.

Behçet's disease (BD) is chronic, relapsing and multisystem inflammatory disorder, whose diagnosis is essentially clinical. In recent studies, the antagonists of tumor necrosis factor alpha have shown good results in the treatment of mucocutaneous manifestations of BD. The authors describe three cases of BD with serious mucocutaneous involvement treated with infliximab. CLINICAL CASE 1: A 16-year-old female patient with an 8-year history of severe bipolar aphtosis. A rapid clinical response to biological therapy was verified, with partial and total remission of ulcers at 2nd and 6th week of treatment, respectively. CLINICAL CASE 2: A 56-year-old female patient with chronic nodular panniculitis of lower limbs, arthralgias and orogenital ulceration. After 6 weeks of treatment with infliximab, a complete clinical remission was observed. CLINICAL CASE 3: A 50-year-old female with a 15-year history of relapsing oropharyngeal ulceration. A good clinical response to biologic therapy was observed. At 22nd week it was interrupted because frequent dental abscesses. In our experience, infliximab is an effective therapeutic alternative that should be considered in the presence of mucocutaneous manifestations resistant to conventional therapies.

Facial scars after a road accident--combined treatment with pulsed dye laser and Q-switched Nd:YAG laser.

We report the case of a woman who presented with several facial scars following a road accident. Treatment was carried out using combined laser treatment with pulsed dye laser (PDL) and Q-switched neodymium:yttrium-aluminum-garnet laser (QS Nd:YAG laser). No side effects or complications from treatment were noted or reported. The patient had very good cosmetic results with this combined technique. A variety of facial scars - erythematous, pigmented, atrophic, and hypertrophic - may occur as a result of trauma, surgery, burns, and skin disease. Surgery with other adjunctive methods including radiotherapy, intralesional steroids, and pressure therapy have shown variable results. Laser treatment has been attempted for scar revision since the 1980s. The PDL is the optimal treatment for reducing scar bulk and symptoms. It also decreases erythema and telangiectasia associated with scars, normalizes the skin surface texture, and improves the scar pliability. The QS Nd:YAG laser (1064 nm) is highly effective for traumatic tattoo removal, resulting in complete clearance in the majority of cases.