Maurício Mota de Avelar Alchorne

PTPN11 mutations are not responsible for the Cardiofaciocutaneous (CFC) syndrome

Cardiofaciocutaneous (CFC) syndrome is a multiple congenital anomalies/mental retardation syndrome characterized by congenital heart defects, characteristic facial appearance, short stature, ectodermal abnormalities and mental retardation. It was described in 1986, and to date is of unknown genetic etiology. All reported cases are sporadic, born to non-consanguineous parents and have apparently normal chromosomes. Noonan and Costello syndromes remain its main differential diagnosis. The recent finding of PTPN11 missense mutations in 45–50% of the Noonan patients studied with penetrance of almost 100% and the fact that in animals mutations of this gene cause defects of semilunar valvulogenesis, made PTPN11 mutation screening in CFC patients a matter of interest. We sequenced the entire coding region of the PTPN11 gene in ten well-characterised CFC patients and found no base changes. We also studied PTPN11 cDNA in our patients and demonstrated that there are no interstitial deletions either. The genetic cause of CFC syndrome remains unknown, and PTPN11 can be reasonably excluded as a candidate gene for the CFC syndrome, which we regard as molecular evidence that CFC and Noonan syndromes are distinct genetic entities.

Granular parakeratosis in children: case report and review of the literature.

Abstract: Granular parakeratosis is a cutaneous eruption with erythematous and/or brownish hyperkeratotic papules and plaques which are exclusively localized to intertriginous areas and show histopathologic features of an unusual form of parakeratosis. The etiology is unknown, but the excessive use of various topical preparations (e.g., ointments and deodorants) has been associated with this disease. It has heretofore been reported only in adults. We report two children, ages 3 and 5 months, with characteristic lesions in the groin associated with topical pomades used to prevent diaper rash. This is the first report associating the clinical presentation and the histopathologic diagnosis of granular parakeratosis in children. The literature on this entity is also reviewed and all case reports are summarized.

Histopathologic Changes Induced by Intense Pulsed Light in the Treatment of Poikiloderma of Civatte

Background The clinical efficacy of intense pulsed light (IPL) in the treatment of poikiloderma of Civatte (PC) is well documented, but little is known about microscopic changes. Objective To analyze histopathologic findings on the necks of individuals with PC after IPL therapy. Materials and Methods Fourteen patients with PC on the neck underwent three monthly sessions of IPL. Biopsies and clinical photographs were taken before and 60 days after treatment. A dermatopathologist analyzed histopathologic slides stained with hematoxylin and eosin, Massons trichrome, Verhoeff‐van Gieson and Fontana‐Masson or processed for CD‐34 immunohistochemistry. The slides also underwent digital image analysis. Clinical results were based on the analysis of the pictures by three dermatologists and on patient satisfaction. Results Intense pulsed light treatment resulted in more‐homogeneous melanin distribution; a greater number of fibroblasts and nonfragmented elastic fibers; and greater density (p = .01), color intensity (p = .02), number and thickness of the collagen bundles. No significant changes in vessels‘ number or diameters were observed. Clinical results were positive in 92.9% of the cases. Conclusion IPL treatment of PC induced a more‐homogeneous distribution of melanin and increased nonfragmented elastic fibers, collagen density, and intensity. These changes were related to clinical improvement.

Multiple Deep Granuloma Annulare Limited to the Cephalic Segment in Childhood

Abstract:  Deep granuloma annulare is a rare variance of granuloma annulare. We present a 4‐year‐old boy with 30 lesions located only in the scalp with spontaneous regression of all lesions.

Presence of oral lesions in leprosy patients does not imply involvement by Mycobacterium leprae

6. Huang GT-J, Yamaza T, Shea L, Djouad F, Kuhn N, Tuan R, Shi S. Stem/progenitor cell–mediated de novo regeneration of dental pulp with newly deposited continuous layer of dentin in an in vivo model. Tissue Eng A. Epub ahead of print November 19, 2009. 7. Huang GT-J, Gronthos S, Shi S. Mesenchymal stem cells derived from dental tissues vs. those from other sources: their biology and role in regenerative medicine. J Dent Res 2009;88:792-806.

Paracoccidioidomycosis with sarcoid-like lesions:a diagnostic challenge

Clinical presentation of paracoccidioidomycosis (PCM) can be diverse. Morphology and quantity of skin lesions depends on interactions between host immunity and fungus virulence. Diagnosis can be a challenge considering that this fungus has low virulence and some individuals have immunity to microorganism, which results in well-marked granulomas without visible microorganisms. We report herein a clinical presentation of sarcoid-like PCM, initially diagnosed as tuberculoid leprosy. This rare type of PCM is often mistaken for other types of chronic granulomatous diseases. Diagnosis was confirmed after 4 years when a special stain analysis helped in the identification of the specific etiologic agent.