Subject(s)
Abdomen/pathology , Anemia, Aplastic/complications , Antimetabolites, Antineoplastic/adverse effects , Azacitidine/adverse effects , Immunocompromised Host , Sweet Syndrome/complications , Aged , Anemia, Aplastic/drug therapy , Antimetabolites, Antineoplastic/administration & dosage , Azacitidine/administration & dosage , Fatal Outcome , Humans , Injections, Subcutaneous/adverse effects , Male , Shock, Septic/etiologyABSTRACT
BACKGROUND: Blueberry muffin baby is a characteristic neonatal syndrome characterized by multiple dark-bluish skin nodules. The clinical significance and prognosis of this syndrome are variable. CASE REPORT: A male child was born to non-consanguinous parents. At birth, a polymalformative syndrome associated macrostomy, bilateral cryptochidy and hexadactyly. There were also about twenty firm dark-bluish skin nodules disseminated over the entire body. These skin lesions regressed spontaneously within one month. Pathology examination of a skin nodule showed lymphomonocyte proliferation. Immunostaining favored T cell infiltration without monoclonal proliferation. Medullar genome mapping showed evidence of a fragile site on the end of chromosome 20. At 8 months the child had normal development. DISCUSSION: We attributed this blueberry muffin baby syndrome to T cell proliferation but we were unable to distinguish between extramedullary leukopoiesis and leukemia. Despite the absence of systematic disease and the complete regression, no exact diagnosis and prognosis could be established in the case. The association of blueberry muffin baby syndrome with a polymalformative syndrome was probably related to a genetic anomaly on chromosome 20 not previously reported.
Subject(s)
Abnormalities, Multiple/pathology , Chromosome Aberrations/pathology , Chromosomes, Human, Pair 20 , Cryptorchidism/pathology , Macrostomia/pathology , Polydactyly/pathology , Skin Diseases, Papulosquamous/congenital , Skin Diseases, Papulosquamous/pathology , Abnormalities, Multiple/genetics , Chromosome Aberrations/genetics , Chromosome Disorders , Cryptorchidism/genetics , Hematopoiesis, Extramedullary/genetics , Histiocytosis/congenital , Humans , Infant, Newborn , Leukemia, Monocytic, Acute/congenital , Macrostomia/genetics , Male , Polydactyly/genetics , Remission, Spontaneous , Skin Diseases, Papulosquamous/genetics , SyndromeABSTRACT
The so-called perivascular epithelioid cell neoplasm (PEComa) family includes angiomyolipoma, clear cell 'sugar' tumor (CCST), lymphangioleiomyomatosis, and clear cell myomelanocytic tumor (CCMMT). These rare tumors are characterized by the co-expression of melanocytic and muscle markers. They have been recognized in an increasing number of sites but currently only one case of PEComa, of the CCMMT subtype, has been reported in the skin in abstract form. We provide the clinicopathologic description of a case of extrapulmonary CCST located in the dermis and superficial subcutis of the thigh of a 60-year-old female. The lesion was composed of nests of epithelioid and spindle cells with abundant clear to granular cytoplasm and distinct cell borders. The tumor showed strong and diffuse immunoreactivity with HMB-45. Scattered cells expressed desmin and h-caldesmon. Antibodies to S-100 protein, melan-A, cytokeratins, and smooth muscle actin were negative. This first case of cutaneous PEComa of the CCST type expands the differential diagnosis of clear cell/granular cell tumors of the skin.
Subject(s)
Epithelioid Cells/pathology , Skin Neoplasms/pathology , Smooth Muscle Tumor/pathology , Biomarkers, Tumor/analysis , Diagnosis, Differential , Epithelioid Cells/metabolism , Female , Humans , Immunohistochemistry , Middle Aged , Skin Neoplasms/metabolism , Smooth Muscle Tumor/metabolismABSTRACT
The authors report a clinical case of acrodermatitis chronica atrophicans in a 65 year old diabetic woman. The characteristic cutaneous lesion restricted to the dorsal aspect of the left hand has been evolved since two years, together with a progressive development of a typical Dupuytren disease. This yielded a contracture of the last 3 phalanges of the same left hand. Confirmatory techniques included the histology of the skin, the reactivity of specific-IgG antibodies showing high avidity and Western blot. Of this, the immunodominant antigens which were extracted from 3 genospecies of Borrelia sensu lato i.e. Bb sensu stricto, Bb garinii, Bb afzelii were compatible with past infection. Apart from the diabetic status which may have predisposed the patient to the development of Dupuytren disease, the authors question about the potential role of Borrelia burgdorferi in the occurrence of this associated disease.
Subject(s)
Acrodermatitis/diagnosis , Antibodies, Bacterial/analysis , Blotting, Western , Borrelia burgdorferi/immunology , Lyme Disease/diagnosis , Acrodermatitis/complications , Aged , Belgium , Diabetes Complications , Diabetes Mellitus/diagnosis , Dupuytren Contracture/complications , Dupuytren Contracture/diagnosis , Female , Hand Dermatoses/complications , Hand Dermatoses/diagnosis , Humans , Immunoglobulin G/analysis , Lyme Disease/complications , Sensitivity and SpecificityABSTRACT
A 45-year-old man developed a painful and rapidly progressive sensory-motor polyneuropathy associated with confusion and convulsions. This resulted in hypoventilation and led to respiratory failure and coma. A rapid and diffuse alopecia occurred after 3 weeks in the intensive care unit. Examination of hair roots under polarized light detected dystrophic anagen hairs with dark bands caused by empty spaces in the disorganized cortex. These dark zones were originally reported in patients with thallium poisoning and a toxicological investigation confirmed thallium exposure. The classical systemic symptoms and the various dermatological signs are reviewed, and the origins of contamination and physiopathology discussed.