Multifocal lymphangioendotheliomatosis with thrombocytopenia: a newly recognized clinicopathological entity

BACKGROUND: Severe thrombocytopenic coagulopathy may complicate platelet-trapping vascular tumors such as kaposiform hemangioendothelioma and tufted angioma. Low-grade, chronic consumptive coagulopathy may occur with extensive venous and lymphatic malformations. We have also observed patients with rare multifocal, congenital skin and gastrointestinal (GI) tract vascular anomalies of distinctive and remarkably similar appearance, all associated with coagulopathy. We studied the clinical and histopathologic features of 3 patients demonstrating this previously uninvestigated phenomenon. OBSERVATIONS: All 3 patients presented with hundreds of congenital red-brown skin plaques as large as a few centimeters, with similar lesions throughout the GI tract and severe GI tract bleeding. One patient had synovial involvement. All had significant thrombocytopenia, with prothrombin and partial thromboplastin times and fibrinogen levels near the reference range. Corticosteroids and/or interferon alfa treatment resulted in equivocal or no improvement. Skin lesions from all 3 patients were histologically distinctive and similar, including dilated, thin-walled vessels in the dermis and subcutis lined by hobnailed, proliferative endothelial cells (10%-15% immunoreactive for Ki-67), most displaying intraluminal papillary projections. Immunoreaction for the lymphatic marker LYVE-1 was uniformly present. CONCLUSIONS: We propose the term multifocal lymphangioendotheliomatosis with thrombocytopenia to distinguish this newly recognized clinicopathological entity. These congenital lesions, like tufted angioma and kaposiform hemangioendothelioma, show lymphatic differentiation, strengthening the association between abnormal lymphatic endothelium and coagulopathy.     

Multifocal lymphangioendotheliomatosis without thrombocytopenia or clinical signs of systemic bleeding

Multifocal lymphangioendotheliomatosis with thrombocytopenia (MLT) is an extremely rare recently described disorder characterized by diffuse congenital skin and gastrointestinal vascular lesions that may be associated with gastrointestinal bleeding and thrombocytopenia. We herein present a case report of multifocal lymphangioendotheliomatosis without thrombocytopenia or extensive extracutaneous involvement (gastrointestinal bleeding). Given the high morbidity and mortality associated with this disease, it is important for clinicians to recognize this disorder in order to select the most appropriate therapeutic approach.     

Multifocal congenital lymphangioendotheliomatosis without gastrointestinal bleeding and/or thrombocytopenia

A 5-month-old male infant presented with an increasing number of widespread asymptomatic violaceous cutaneous macules, papules, and nodules since birth. He is 1 of the 2 identical twins born to unrelated healthy parents. Histology revealed proliferation of dilated thin-walled vascular channels lined by bland endothelial cells in the dermis and subcutis. In some of the vascular channels, there were formations of intravascular papillae surrounded by hobnail endothelial cells. Immunohistochemistry demonstrated positive staining for CD31, CD34 factor VIII and vascular endothelial growth factor-3 (VEGFR-3) and negative staining for D2-40 and latencyassociated nuclear antigen-1 (LANA-1). The clinical and histologic findings were compatible with multifocal congenital lymphangioendothelionmatosis with thrombocytopenia, except that a year of follow-up was uneventful and no gastrointestinal bleeding or thrombocytopenia was recorded.     

Dermatomyositis associated with idiopathic thrombocytopenia

A case of dermatomyositis is described with the simultaneous appearance of clinical and laboratory features of myositis, skin involvement and idiopathic thrombocytopenia with associated anti-platelet antibodies.     

Newborn with pseudohypoaldosteronism and miliaria rubra

Pseudohypoaldosteronism type 1 is a rare autosomal recessive disorder with salt-wasting, hyperkalemia, metabolic acidosis, and multiorgan aldosterone unresponsiveness, which results in an excessive loss of sodium chloride through urine, sweat and saliva, among other secretions. Inflammation of and around the damaged eccrine glands has been attributed to the deleterious effects of excessive eccrine gland salt exposure. Such a high concentration of salt in the sweat causes cutaneous lesions similar to those appearing in miliaria rubra.     

Giant multifocal venous malformation with monomelic predominance

INTRODUCTION: Venous malformations are usually easy to recognise. We describe one case in which the clinical aspect was suggestive of Maffucci's syndrome. OBSERVATION: A 44-year-old male, had numerous angiomatous nodules which could be emptied by pressure since infancy. The progressive increase in volume of these lesions on the arms and forearms led to enormous deformation and major disability. The thoracic area and the right foot were also affected to a lesser degree. Two endobuccal lesions were also found on the clinical examination The cutaneous lesions were tender and occasionally hyperhidrosis was present. The presence of phleboliths on Xray and the presence of venous and capillary cavities with numerous thrombi confirmed the diagnosis of venous malformation. Following the failure of the Ethibloc(R) embolization, eight excisions were made in a two-year-period with a good functional result. Elastic strapping was then applied. DISCUSSION: The diagnosis of venous malformation was based on clinical, radiological and histological findings. The absence of chondroma excluded the diagnosis of Maffucci's syndrome. Spindle cell hemangioendothelioma, "blue rubber bleb nevus" and glomangiomatosis were confirmed by the histological findings. The absence of port-wine stain or bone hypertrophy and the presence of multiple nodules excluded Klippel-Trenaunay syndrome. The presence of multifocal involvement with oral lesions, the severity of the deformation and the relative success of the surgical procedure make this case unusual.     

Successful treatment of multifocal cutaneous leishmaniasis with miltefosine

We report a 48-year-old immunocompetent male, resident of Central India, who presented with slowly progressive asymptomatic multiple red lesions on different parts of body. On enquiry, the patient gave history of travel to Middle East 6 months back. Examination showed 10 crusted erythematous indurated plaques and nodules over forearms, left leg, right index finger, left wrist and dorsa of both feet. Histopathological examination of tissue biopsy showed multiple intracellular as well as extracellular leishmania donovan bodies. Keeping in mind the higher rate of side effects to pentavalent antimony, we treated this patient with oral miltefosine 50 mg bid and the lesions showed complete resolution over 4 months of therapy.     

Efalizumab-associated thrombocytopenia

There have been multiple reports of thrombocytopenia associated with efalizumab therapy for the treatment of psoriasis. The current recommendations are to check platelet counts monthly for the first 3 months of efalizumab therapy, then every 3 months for the duration of therapy. We report a case of efalizumab-associated thrombocytopenia that occurred between 10 and 16 weeks after therapy was initiated. Based on our case and a review of the existing reports in the literature, we recommend monthly platelet counts during the first 4 months of therapy, then every 3 months for the duration of therapy. In addition, if the total platelet count drops by 50 x 10(9) cells/L or more between any two consecutive counts, we recommend monthly platelet counts be resumed until the count stabilizes. Finally, patients should be educated about and assessed for the signs and symptoms of thrombocytopenia before starting efalizumab therapy and at every follow-up visit.     

A case of atypical sporotrichosis with multifocal cutaneous ulcers

We report an atypical case of sporotrichosis in an elderly woman working as a horticulturist, who presented with multiple ulcers and nodules on the face and the right upper back. Histological examination found numerous small yeast-like spores in the granulomatous reaction in the upper dermis. Culture and DNA analysis identified Sporothrix schenckii, group B. Misuse of topical steroids and self-inoculation may have caused the atypical features found in this patient.     

Childhood-onset multifocal atrophic dermatofibrosarcoma

BACKGROUND: Atrophic dermatofibrosarcoma is a rare clinical variant of dermatofibrosarcoma protuberans (or Darier-Ferrand tumor) preferentially observed in childhood and early adulthood. OBSERVATION: We report a case of multifocal atrophic dermatofibrosarcoma protuberans of childhood onset only diagnosed when the patient was 29 years old. The clinical presentation was an asymptomatic macular brown plaque on the right thigh measuring 10 cm. Initially, because of the large size of the lesion, treatment consisted of limited surgical excision. DISCUSSION: Diagnosis of the atrophic variant of dermatofibrosarcoma in childhood is difficult, and is usually made several years later in early adulthood because of its slow development, lack of symptoms and generally benign appearance. Histological tests and immunohistochemical staining may confirm clinically suspected diagnosis, and in complex cases, cytogenetic studies can help confirm a diagnosis of dermatofibrosarcoma through detection of reciprocal translocation t (17,22), which fuses collagen type Ialpha1 (COLIA1) and platelet-derived growth factor (PDGDFbeta), and which is highly characteristic of dermatofibrosarcoma protuberans. Conventional treatment of dermatofibrosarcoma protuberans consists of extensive surgical excision, but Mohs micrographic surgery is also advocated for removal of certain dermatofibrosarcoma protuberans, while use of tyrosine kinase PDGF receptor inhibitors such as imatinib mesylate (Glivec) is limited to distant metastases.     

Leucopenia, thrombocytopenia and lymphadenopathy associated with sulphasalazine

We report a 19-year-old woman with psoriasis who developed a severe allergic reaction within 1 week of commencement of sulphasalazine; her skin becoming erythrodermic with associated lymphadenopathy, leucopenia and thrombocytopenia. Clinical signs and haematological abnormalities rapidly returned to normal on discontinuation of sulphasalazine. It is important to monitor carefully hacmatological indices in the early stages of treatment with this drug.     

Primary multifocal localized hypertrichosis

We describe a new variant of congenital hypertrichosis, primary multifocal localized hypertrichosis in a mother and her son. They presented with long vellus hair on the trunk and arms in foci from birth. They also associated some forms of hair dysplasia.     

Newborn infant with hemophagocytic lymphohistiocytosis and generalized skin eruptions

Hemophagocytic lymphohistiocytosis (HLH) is a rare disease resulting from abnormal proliferation of histiocytes in tissues and organs. The incidence of HLH is 1:50,000-300,000. Cutaneous eruptions have been reported in 6-65% of the cases. It's important to differentiate the eruptions from other systemic diseases. We present an infant with prominent skin manifestations of HLH. On the 11th day of life, she was admitted to our hospital with complaint of a generalized rash that had started the previous day. The eruptions consisted of irregularly shaped maculopapular erythematous rash and purpura. Bone marrow aspiration on the 25th day of life revealed hemophagocytosis with increased macrophages and histiocytes, consistent with HLH. Treatment was started with dexamethasone followed by induction chemotherapy with etoposide. All skin manifestations resolved in a few days. Although the clinical features are nonspecific, HLH should be kept in mind as an accompanying disease in neonates presenting with skin eruptions.     

Asymmetric Crying Face in a Newborn with Isotretinoin Embryopathy

Abstract: We report a newborn with asymmetric crying face and other anomalies whose mother had taken isotretinoin during the first month of pregnancy. We hypothesize that asymmetric crying face is a finding of retinoic acid embryopathy and results from the intrauterine effects of retinoic acid on the development of the depressor anguli oris muscle or the mandibular branch of the facial nerve.     

Widespread Miliaria Crystallina in a Newborn with Hypernatremic Dehydration

Miliaria, which is extravasation of sweat into the epidermis and dermis due to sweat duct obstruction, is a commonly seen dermatologic disorder in newborns. We present a case of extensive, widespread miliaria crystallina that developed in a newborn during treatment of severe hypernatremic dehydration. A possible mechanism could be the destruction of sweat ducts with excretion of sweat with high levels of sodium.