PUVA therapy in persistent cutaneous histiocytosis: Case report and literature review.

BACKGROUND: Cutaneous and mucocutaneous histiocytosis (group C) comprise a wide variety of entities affecting skin and/or mucosae. Although they are considered as reactive proliferations, their exact pathophysiology remains unknown and, therefore, they lack a specific treatment. AIMS: The aim of this study is to review the evidence on cases of histiocytosis treated with UVB and/or UVA and to report a new case of relapsing group C histiocytosis that has been successfully treated with PUVA therapy. MATERIALS & METHODS: We have conducted a review of the literature published over the last 40 years on the treatment of histiocytosis with phototherapy in the online PubMed database. We also describe a new case of successful treatment of histiocytosis with PUVA therapy. RESULTS: Our patient was a 27-year-old man with persistent outbreaks of cutaneous histiocytosis over the previous 8 years. He responded successfully to PUVA therapy, and no relapse has been detected after one year of follow-up. DISCUSSION: Self-involution is usual in group C histiocytosis, so conservative management is usually the first approach. Relapsing cases pose a therapeutic challenge. Reported treatment options for these patients include isotretinoin, cryotherapy, immunosuppressants, low-dose chemotherapy, CO2 laser, radiotherapy, and surgery. Phototherapy and photochemotherapy have been used in a small number of patients with considerable success. The main limitation to provide firm recommendations on histiocytosis therapy is the absence of solid evidence, as the articles published are mainly case reports with a short follow-up. In our patient, despite the short follow-up we have considered photochemotherapy to be effective since no spontaneous remission had been achieved in the previous 8 years. CONCLUSION: PUVA therapy could be a safe and effective option to treat persistent cutaneous manifestations in patients with histiocytosis, although more evidence is required to support this statement.

Malformación venolinfática con erosión ósea. Una afectación rara en estas lesiones / Venolymphatic malformation with bone erosion. An unusual affectation in these lesions

Paciente varón de 30 años que consultó por una lesión en el 5.° dedo del pie derecho con afectación cutánea del pulpejo y de todo el borde externo. Macroscópicamente se trataba de una lesión violácea con superficie queratósica de 1cm. En la radiografía simple se objetivó un aumento de partes blandas, de posible origen vascular. La resonancia mostró una lesión que erosionaba la cortical de la falange distal, de señal muy hiperintensa compatible con malformación vascular de bajo flujo. Se realizó extirpación de la lesión mediante amputación de la falange distal y a nivel histológico se observó una lesión formada por vasos de tipo venoso y tipo linfático que eran D2-40 positivos. En las malformaciones vasculares la participación cutánea, aunque sea mínima, puede esconder una importante afectación profunda. Cuando asientan sobre planos óseos hay que descartar la erosión de la cortical del hueso subyacente (AU)

A 30 year old male presented with a cutaneous lesion on the distal area of the 5th toe with involvement of the outer edges. Macroscopically, it was a 1cm violaceous and keratotic lesion. Radiography showed an increase in soft tissue, possibly due to a vascular lesion. MRI showed a hyper-intense signal with erosion of the distal phalanx compatible with a low-flow vascular malformation. The distal phalanx was amputated. Histopathology revealed a lesion formed by venous and D2-40 positive lymphatic vessels. This case highlights the fact that even minimal skin involvement in vascular malformations may conceal an important deeper lesion, such as erosion of the cortical bone (AU)

[Venolymphatic malformation with bone erosion. An unusual affectation in these lesions]. / Malformación venolinfática con erosión ósea. Una afectación rara en estas lesiones.

A 30 year old male presented with a cutaneous lesion on the distal area of the 5th toe with involvement of the outer edges. Macroscopically, it was a 1cm violaceous and keratotic lesion. Radiography showed an increase in soft tissue, possibly due to a vascular lesion. MRI showed a hyper-intense signal with erosion of the distal phalanx compatible with a low-flow vascular malformation. The distal phalanx was amputated. Histopathology revealed a lesion formed by venous and D2-40 positive lymphatic vessels. This case highlights the fact that even minimal skin involvement in vascular malformations may conceal an important deeper lesion, such as erosion of the cortical bone.

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.

Systemic amyloidosis with an exceptional cutaneous presentation.

Alopecia and nail distrophy are rare signs of systemic amyloidosis. We present a case with both manifestations and give a brief review of the cutaneous signs of this disease. A biopsy of affected or unaffected skin may provide the diagnosis.

Leydig cell tumour: enucleation as a therapeutic choice in a case with atypical symptoms.

OBJECTIVE: Testicular tumours are rare in paediatric patients, accounting for only 1% of tumours in boys. Leydig cell tumours are the most common gonadal stromal tumours. Since these tumours are functionally active, secreting testosterone, they characteristically produce isosexual pseudoprecocious puberty (IPP), the customary therapeutic choice being radical orchiectomy. Nowadays, considering that Leydig cell tumour in boys are invariably benign, some authors suggest a more conservative choice of therapy. METHODS: This article presents the case of a patient with a cytological and immunohistochemical diagnosis of Leydig cell tumour with no clinical symptoms of IPP. The treatment carried out was enucleation of the tumour through a transcrotal access with subsequent follow-up monitoring. RESULTS: After 2 years of follow up the patient remains free of symptoms and shows a degree of sexual development corresponding to his age. CONCLUSIONS: We consider enucleation of the tumour to be a safe and effective therapy as an alternative to radical orchiectomy.

Tumor de celulas de leydig: enucleación como tratamiento en un caso de presentación atípica / Leydig cell tumour: enucleation as a therapeutic choice in a case with atypical symptoms

OBJETIVO: Los tumores testiculares son poco frecuentes en edad pediátrica representando tan solo el 1% de los tumores infantiles . El tumor de células de Leydig es el más frecuente de los tumores del estroma gonadal. Debido a que estos tumores son funcionalmente activos secretando testosterona, característicamente suelen causar pseudopubertad precoz isosexual(PPI) siendo su tratamiento habitual la orquiectomía radical. OBJETIVOS: En la actualidad considerando que el tumor de células de Leydig en niños muestra un comportamiento invariablemente benigno algunos autores sugieren un tratamiento más conservador. MÉTODOS: En este artículo presentamos el caso de un paciente con diagnóstico citológico e inmunohistoquímico de tumor de células de Leydig que cursaba sin manifestaciones clínicas de PPI y en el que el tratamiento fue la enucleación tumoral transescrotal y seguimiento posterior. RESULTADOS: Tras 2 años de seguimiento el paciente se mantiene asintomático y con desarrollo sexual acorde a su edad. CONCLUSIONES: consideramos la enucleación tumoral un tratamiento eficaz, seguro y alternativo a la orquiectomía radical(AU)

OBJECTIVE: Testicular tumours are rare in paediatric patients, accounting for only 1% of tumours in boys. Leydig cell tumours are the most common gonadal stromal tumours. Since these tumours are functionally active, secreting testosterone, they characteristically produce isosexual pseudoprecocious puberty (IPP), the customary therapeutic choicebeing radical orchiectomy. Nowadays, considering that Leydig cell tumour in boys are invariablybenign, some authors suggest a more conservative choice of therapy. METHODS: This article presents the case of a patient with a cytological and Immunohistochemical diagnosis of Leydig cell tumour with no clinical symptoms ofIPP. The treatment carried out was enucleation of the tumour through a transcrotal accesswith subsequent follow-up monitoring. RESULTS: After 2 years of follow up the patient remains free of symptoms and showsa degree of sexual development corresponding to his age. CONCLUSIONS: We consider enucleation of the tumour to be a safe and effectivetherapy as an alternative to radical orchiectomy(AU)

Leukonychia totalis associated with multiple pilar cysts: report of a five-generation family: FLOTCH syndrome?

The association of familial totalis leukonychia with multiple pilar cysts is a rare condition that could represent a separate syndromic entity. Since Bauer described a family with totalis leukonychia and sebaceous cysts in 1920, only four new affected families have been reported. We report a five-generation family with a total leukonychia and multiple pilar cysts on the scalp. The hypothesis of a deficiency of a gene regulating the structure of keratin has been postulated but the exact genetic mechanism has not been yet determined. In our family, no other keratinizing structures were involved.

Capillary-lymphatic malformation, kaposiform hemangioendothelioma and delayed Kasabach-Merritt phenomenon.

According to International Society for the Study of Vascular Anomalies classification, vascular anomalies are mainly divided into two groups: vascular tumors and vascular malformations. Nevertheless, a small group of patients present clinical and/or histopathologic overlapping features. We report a case of a 4-month-old boy that presented a vascular lesion on his right buttock with involvement of abdominal wall muscles, abdominal cavity and drainage to primitive iliac by a tortuous drainage vein. Surgery was performed and histopathology demonstrated a combined vascular malformation. Six months later he developed a thrombocytopenia and repeat magnetic resonance imaging revealed a new solid mass involving the majority of the abdominal cavity. At 18 months of age the patient developed a Kasabach-Merrit phenomenon and treatment with vincristine, interferon and then acetyl-salicilic acid and dypiridamol was started. No response in platelet counts was obtained and one more surgery was perfomed. On this occasion a histopathologic study revealed vascular malformation areas intermingled with areas of kaposiform hemangioendothelioma. This patient demonstrates the Kasabach-Merritt phenomenon with kaposiform hemangioendothelioma arising within a pre-existing combined vascular malformation.

Three cases of cutaneous phaeohyphomycosis by Exophiala jeanselmei.

Cutaneous phaeohyphomycosis is a rare opportunistic fungal disease, knowledge of which is important because of the increase in organ transplantation, aggressive treatments for malignancies, and chronic use of corticosteroids. We report 3 cases of cutaneous phaeohyphomycosis: two patients treated with oral corticosteroids and one elderly woman with multiple hospitalizations. They showed several different clinical appearances. Histopathologically, the fungal infection affected the dermis and subcutis in all cases and in one of them, also the epidermis. Exophiala jeanselmei was isolated from the purulent exudate in the three cases. Good response was obtained with surgical and antifungal treatment.

Necrotizing vasculitis with a polyarteritis nodosa-like pattern and selective immunoglobulin A deficiency: case report and review of the literature.

Selective immunoglobulin A deficiency (IgAD) is a primary immunodeficiency disease characterized by low levels (< 7 mg/dl) of serum immunoglobulin (Ig) A and normal serum levels of IgG and IgM. Patients with IgAD have increased risk for recurrent respiratory and gastrointestinal infections, autoimmune disease, asthma and allergy. A 26-year-old woman was admitted with sudden onset of painful cutaneous lesions on her lower extremities, pyrexia and arthromyalgia. Her medical history was remarkable for recurrent respiratory tract infections, self-limited episodes of acute diarrhea, atopy, splenomegaly and a 4-year history of a lung granulomatous lesion. Laboratory and imaging tests ruled out severe life-threatening infection, connective tissue disease and neoplasm. Serum protein electrophoresis showed a low IgA serum level (6.67 mg/dl), with normal serum levels of IgG and IgM, conducting to a diagnosis of selective IgAD. A skin biopsy showed necrotizing vasculitis without any sign of internal organ disease. We report a patient with IgAD and granulomatous involvement of lungs, spleen and medium-sized arteries of the skin. Although IgAD results from a failure of B-cell differentiation, we propose that deregulated immune response with production of cross-reactive antibodies and hyperstimulation of T cells and macrophages could contribute to this widespread granulomatous reaction.

Papular elastorrhexis, a distinctive entity?

Papular elastorrhexis is a rare entity of elastic tissue characterized by multiple white papules usually located on the trunk. We report a case of papular elastorrhexis in a 22-year-old man with sparse lesions and discuss the main controversial facts in this entity: its consideration as an independent disease or as an incomplete form of Buschke-Ollendorff syndrome and the confusion with and its possible inclusion as a variant of elastic tissue naevi.

Neutrophilic dermatosis of the hands: presentation of eight cases and review of the literature.

Pustular dermatosis of the dorsal hands is a peculiar variant of Sweet's syndrome described by Strutton et al. Nevertheless, not all authors accept this entity. We present a retrospective study of eight cases of neutrophilic vasculitis of the hands. Three patients presented with lesions only on the dorsal hands, three with lesions on the palmar surface and two with lesions on the dorsal and palmar surfaces of the hands. The patients with lesions on the dorsal surface presented a pustular aspect, and the histopathological examination revealed a high degree of vascular damage with presence of vasculitis and, in one case, with fibrinoid necrosis. Therefore, the term pustular vasculitis of the dorsal hands introduced by Strutton et al. should probably be conserved. Our cases may have demonstrated a peculiar clinicopathological disease with its own entity.