Birt HoggDube Syndrome

Fibrofolliculomas Face

Mutation in the folliculin gene, chromosome 17p11.2 Fibrofolliculomas, trichodiscomas, acrochordons, pulmonary cysts with spontaneous pneumothorax, renal carcinoma, and colorectal carcinoma in some kindreds Skin-colored papules of face, neck, ears, and upper trunk, with intertriginous soft papules Trichodiscoma interfollicular ovoid nodule with spindled cells in loose fibrillary stroma Fibrofolliculoma central follicle with extension of irregular epithelial strands into surrounding well-defined...

Leukemia Cutis

Cutaneous leukemia, extramedullary myeloid tumor Erythematous patches, papules, nodules, hemorrhagic and purpuric lesions, blue-green nodules Malignant immature hematopoietic precursor cells in dermis, diffusely or in patchy distribution Lymphocyte surface markers and or markers of specific Histologic subtype of high-grade leukemias No local therapy systemic chemotherapy Leukemia cutis is an uncommon cutaneous eruption that may be difficult to diagnose. In the vast majority of patients, there...

Anthrax Infection

Woolsorter's disease (inhalational anthrax) Inoculation or inhalation of spores of Bacillus anthracis, a gram-positive bacillus None Cutaneous papule, followed by vesicle, then ulcer with eschar at the site of inoculation septicemia in approximately 20 Partial epidermal necrosis, dermal edema with fibrin, neutrophils, and abscess formation positive gram stain expected Notifying local health department and laboratory of clinical suspicion, gram stain and culture of vesicle fluid or eschar base,...

Diagnostic Criteria for Kawasaki Syndrome

Presence of fever for at least 5 days, 4 of the 5 criteria below, and lack of another known disease process to cause the illness 1. Bilateral conjunctival injection 2. Changes of the mucous membranes of the upper respiratory tract injected pharynx injected, fissured lips strawberry tongue 4. Changes of the extremities peripheral edema, peripheral erythema, periungual desquamation Strict use of these criteria will miss cases of Kawasaki disease, so-called atypical or incomplete Kawasaki disease....

Info

Lethal Hereditary Vascular Disorders Osler-Weber-Rendu, Ataxia-Telangiectasia, and Fabry's Disease Synonyms OWR Hereditary hemorrhagic telangiectasia FD Anderson-Fabry disease, angiokeratoma corporis diffusum Etiology OWR AD, Chromosome 9 and 12-defect in endoglin or AT AR, 11q22.3 phosphatidylinositol-3-kinase p53 checkpoint regulation FD XL, Xq22.1, alpha-galactosidase A Associations OWR Arteriovenous malformations of the brain, lungs hepatic fibrovascular tumors AT B-cell non-Hodgkin's...

Cutaneous BCell Lymphoma

Lymphoma cutis, marginal zone lymphoma, follicular lymphoma, large cell lymphoma, malignant Violaceous nodules, most common on head and neck Malignant lymphocytes in dermis, diffusely or in patchy Lymphocyte surface markers and light chains Radiation, intralesional chemotherapy systemic chemotherapy if systemic involvement Cutaneous B-cell lymphoma is not a single disease, but rather a family of neoplastic processes characterized by a proliferation of malignant B lymphocytes. These lymphomas...

Mast Cell Disease Urticaria Pigmentosa

IHC repertoire Staging Prognosis Adverse variables Treatment Urticaria pigmentosa, telangiectasia macularis eruptive Nausea, vomiting, diarrhea, syncope, mast cell leukemia, Papules or nodules with or without associated hyperpigmentation and telangiectasia positive Darier's Increased dermal mast cells perivascular or as tumor nodules, basilar hyperpigmentation, vascular ectasia CD117 c-kit and mast cell tryptase positive Bone marrow involvement conveys poor prognosis Varies with subtype of...

Langerhans Cell Histiocytosis

Synonyms Histiocytosis X, Langerhans cell granulomatosis, eosinophilic granuloma, Hand-Sch ller-Christian disease, Letterer-Siwe disease, self-healing reticulohistiocytosis, Hashimoto-Pritzker syndrome Etiology Unknown, a clonal or reactive expansion of Langerhans cells infiltrating various organs Associations May coexist, precede, or follow the development of various solid tumors and hematopoietic malignancies Clinical Polymorphous red-brown purpuric scaly papules, lichenoid papules, purpura,...

Multiple Cutaneous Leiomyomas

Multiple cutaneous and uterine leiomyomatosis MCUL Hereditary leiomyomatosis renal cell cancer HLRCC Mutation in fumarate hydratase gene, mapped to chromosome Uterine leiomyomas and rarely leiomyosarcomas, renal Red-brown indurated papules, sometimes clustered or in linear Reticular dermal fascicular tumor with cigar-shaped nuclei, amphophilic vacuolated cytoplasm, rare mitotic figures Renal, uterine ultrasound, possible evaluation for fumarate Surgical management of underlying tumors, excision...

Ecthyma Gangrenosum

Early Ecthyma Gangrenosum

Etiology Pseudomonas aeruginosa and other gram-negative bacteria, similar lesions caused by opportunistic fungi Associations Immunosuppression, premature infants Clinical Indurated plaques with black eschar and rim of erythema, favors axillae, inguinal folds, and perineum Histology Mixed infiltrate of lymphocytes, neutrophils, plasma cells special stains of affected skin usually demonstrate the organism Evaluation Blood cultures, skin biopsy with fresh tissue culture, special stains on touch...