Purpose: To report a rare case of congenital histiocytosis in a newborn without skin involvement.
Design: Interventional case-report.
Methods: A full-term baby presented with a mass over the palpebral conjunctiva of his left upper lid. Ophthalmic examination was otherwise normal, and the baby was healthy. There were no skin lesions.
Results: The lesion was completely removed surgically. Pathologic examination demonstrated a cellular infiltrate composed of eosinophils and histiocytes. Immunohistochemistry disclosed positive stain for protein S-100 and CD1 antigenic determinant. Pediatric oncology evaluation was completely normal. Eighteen months after presentation, the patient remained healthy without recurrence of the lesion.
Conclusions: Rare cases of congenital histiocytosis can present as a solitary lesion over the palpebral conjunctiva, without skin or systemic involvement.
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http://dx.doi.org/10.1016/j.ajo.2004.10.001 | DOI Listing |
Front Immunol
December 2024
National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Children's Hospital of Chongqing Medical University, Chongqing, China.
Many inborn errors of immunity may accompany secondary hemophagocytic lymphohistiocytosis (HLH), a condition typically characterized by impaired cytotoxic T and NK cell function. A considerable proportion of HLH cases also stem from chronic granulomatosis with phagocytic dysfunction. However, the development of secondary HLH in patients with severe congenital neutropenia (SCN) or cyclic neutropenia (CyN) with abnormal phagocytic cell counts has been less frequently reported.
View Article and Find Full Text PDFCureus
October 2024
Department of Dermatology, Prince Sultan Military Medical City, Riyadh, SAU.
Cureus
September 2024
Nursing, Unidade de Saúde Familiar Planície, Unidade Local de Saúde do Alentejo Central, Évora, PRT.
Langerhans cell histiocytosis (LCH) is a rare histiocytic neoplastic disorder that mainly affects the skin and bones, with dermatological manifestations that can be easily confused with other dermatological conditions, such as seborrheic eczema, psoriasis, lesions of herpes simplex virus infection, fungal infection, lichen planus, and cutaneous lymphomas. This case report describes an eight-month-old infant who, at a child health appointment, presented with progressive erythematous papulovesicular lesions, initially treated with hygiene measures (skin hydration and hygiene) and mupirocin ointment, but which persisted and worsened, leading to a skin biopsy. The diagnosis of self-limiting congenital histiocytosis was confirmed, and the child was referred to the Portuguese Oncology Institute.
View Article and Find Full Text PDFPediatr Allergy Immunol
September 2024
Institute of Child Health, Immunology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Langerhans cell histiocytosis (LCH) is a histiocytic disorder that predominantly affects young children, with congenital manifestations being exceedingly rare. Here, we report a male infant with congenital LCH harboring a driving mutation within the mitogen-activated protein kinase pathway, specifically MAP2K1 Q56P. First-line use of targeted therapy with oral MEK inhibitor trametinib led to rapid and complete resolution of the infant's widespread cutaneous disease.
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