Enfermedades raras: El síndrome de Morgagni Stewart Morel

Hyperostosis frontalis interna (HFI) is manifested by the accretion of bone on the inner table of the frontal bone. Despite the vast literature on HFI, ambiguity exists as to its etiology, osteogenesis, demography, and history. This stimulated the present broad-scale study of HFI which included the evaluation of 1,706 early 20th century skulls (1,007 males and 699 females) from the Hamann-Todd and Terry human osteological collections, as well as 2,019 pre-19th century East-Mediterranean, Amerindian, and Central European skulls. In addition, 72 cadavers were dissected for gross inspection and histology. Special attention was paid to the relationship of the brain and meninges to endocranial lesions. HFI is an independent condition, not a symptom of a more generalized syndrome as suggested in the past. It can appear in a variety of forms but each is the result of the same process and probably of the same etiology. Investigators' previous failure to recognize the mild stages of HFI (types A and B) as an early form of the general HFI process led to erroneous statistics and interpretations of observations. HFI should also be considered a phenomenon separate from HCI, hyperostosis cranialis diffusa (HCD), and other endostoses, even when it appears in association with them. To avoid ambiguity and facilitate the description of cranial hyperostoses, uniform nomenclature (HFI, HCD) has been recommended. HFI is rarely seen in historic populations, regardless of geographical origin. It is most commonly found among females and is believed to be associated with prolonged estrogen stimulation. While its magnitude of manifestation and frequency are much higher in females, HFI is not a purely female phenomenon. Males with hormonal disturbances such as atrophic testis were found to manifest HFI type D. HFI is associated with age insofar as it is much less frequent in females under 40 years of age. Although advanced cases of HFI (types C and D) have been observed in individuals as young as 40 years of age, it is more frequently found after age 60. The frequency of HFI type D will not increase from age 60. Type-predicted analysis by cohort reveals significant ethnic differences. Changes in African American (AA) females appear earlier in life and progress more rapidly than in European American (EA) females. Analysis of radiographs shows a discrepancy between the anatomic prevalence of HFI and its radiological recognition, which is very poor for mild cases. This apparently resulted in the misconceptions that HFI is entirely an old-age phenomenon, and that it is exclusively female. Histological analysis shows that the inner table along with the closely attached dural layer play a major role in the osteogenesis of HFI. Contrary to previous models, no evidence for diploe or ectocranial plate involvement was found. Cadaver study suggests that the predilection for the frontal area may be related to an altered blood supply and/or vascular stretching.

Mucocutaneous lesions in human immunodeficiency virus (HIV)-infected patients with disseminated histoplasmosis have a wide spectrum of clinical manifestations, making its diagnosis difficult. Studies have been restricted to case reports and series with small numbers of patients not specifically focusing on the dermatological aspects of histoplasmosis. To describe the characteristics of mucocutaneous lesions of disseminated histoplasmosis in HIV-infected patients. A retrospective and prospective study was conducted on 36 HIV-infected patients with mucocutaneous histoplasmosis in a tertiary-care hospital in Brazil. Mucocutaneous histoplasmosis was diagnosed by histopathology in 33 of the 36 patients (91%) and/or culture in 23 (64%). Their CD4+ cell counts ranged from 2 to 103 cells/mm(3). The average number of different morphological types of lesions was three per patient. Despite the variability of the lesions, papules (50%), crusted papules (64%) and oral mucosal erosions and/or ulcers (58%) were the most frequent dermatological lesions. A diffuse pattern of distribution of the skin lesions was found in 58% of the cases. There was significant association between the CD4+ cell counts and the morphological variability of lesions per patient. Variation in the lesions seemed to be associated with higher CD4+ cell counts. Doctors caring for HIV-infected patients should be aware of the wide spectrum of dermatological lesions observed in disseminated histoplasmosis and the importance of detecting and isolating the fungus in mucocutaneous tissues.

Case reports have described an association between idiopathic CD4+ T-lymphocytopenia (ICL) and non-Hodgkin's malignant lymphoma (NHML), and both entities have an increased prevalence in patients with primary Sjögren's syndrome (SS). We investigated lymphocyte subset counts in patients with primary SS to determine if presence of different autoantibodies is associated with ICL and hence may represent an increased risk for development of NHML. A total of 80 patients with primary SS according to the American-European Consensus Classification Criteria (AECC) and 37 non-AECC sicca patients were studied for presence of different autoantibodies, and lymphocyte subsets were investigated by flow cytometry. Absolute CD4+ T-lymphocyte counts were significantly lower among anti-SSA antibody seropositive SS patients compared to correlating seronegatives and non-AECC sicca patients (601/microl vs 956/microl and 1087/microl; p < 0.001 and p < 0.001, respectively). ICL was found in 16% of anti-SSA seropositive patients. ICL, a proposed risk factor for development of NHML, occurs frequently and presumably exclusively in patients with primary SS who are anti-SSA antibody seropositive. These findings support that this group comprises patients at risk for development of NHML.