Histiocitosis congénita autolimitada: a propósito de un caso / Congenital self-healing histiocytosis: A case report

Introducción: La histiocitosis/reticulohistiocitosis congénita autolimitada (HCAL) es una variante infrecuente de histiocitosis de células de Langerhans presente de forma congénita o neonatal, de etiología desconocida. La presentación usualmente es múltiple, aunque en un 25% de los casos es solitaria. Caso clínico: Presentamos el caso de un neonato con una lesión localizada en el abdomen, caracterizada por una úlcera de 1 cm, cubierta por una costra amarilla-marrón fibrinoide con un borde bien definido, eritematoso y sobreelevado. El paciente presentaba un excelente estado general, sin otras lesiones ni presencia de adenopatías o visceromegalias. Se indicaron estudios para descartar una patología infecciosa y se realizó una biopsia cutánea. El estudio histopatológico e inmunohistoquímico confirmó el diagnóstico de HCAL. Resultados: Se descartaron lesiones extracutáneas. La lesión involucionó sin requerir tratamiento, resolviéndose de manera satisfactoria en 3 meses, sin afectación extracutánea hasta la fecha

Introduction: Congenital self-healing histiocytosis/reticulohistiocytosis (CSHH) is an infrequent variant of Langerhans cell histiocytosis present congenitally or neonatally. Etiology is unknown. The presentation is usually multiple, however in 25% of the cases the appearance would be solitary. Case report: We present the case of a neonate with a lesion located in the abdomen, characterized by a 1 cm ulcer, covered by a yellow-brown fibrinoid scab with a well-defined, erythematous and raised border. The patient was in excellent general condition, without other lesions, or the presence of lymphadenopathy or visceromegaly. Studies were indicated to rule out infectious pathology and a skin biopsy was performed. The histopathological and immunohistochemical study confirmed the diagnosis of CSHH. Results: Extracutaneous lesions were ruled out. The lesion involuted without requiring treatment resolving satisfactorily in 3 months, without extracutaneous commitment to date

Case of Congenital Self-Healing Reticulohistiocytosis Expanding the Spectrum of Blueberry Muffin Baby.

Congenital self-healing reticulohistiocytosis (CSHRH) is a benign, rare variant of histiocytosis. This condition can present phenotypically as blueberry muffin baby. This is the case of a male neonate with skin involvement of papulonodular violaceous lesions, which resolved spontaneously. The diagnosis of CSHRH is confirmed using histopathology and immunohistochemistry.

Congenital solitary histiocytoma: a variant of Hashimoto-Pritzker histiocytosis. A retrospective study of 8 cases.

BACKGROUND: Self-healing solitary-lesion Hashimoto-Pritzker histiocytosis (HPH), a rare, congenital, purely cutaneous Langerhans histiocytosis (only 30 cases reported), carries a good prognosis. OBJECTIVE: To describe the clinical and histopathological characteristics of solitary HPH. METHODS: To conduct a retrospective, observational study on 8 affected newborns. RESULTS: For these infants, with otherwise normal physical examinations, the unique nodule or papule (5-15-mm diameter) was congenital. Systematic routine histological examination of the lesions found dermal infiltrates constituted predominantly of histiocytes with lymphocytes and eosinophils. Protein S100 and CD1a immunolabelings, done for 7 patients, were positive. Electron microscopy (n = 4) observed Birbeck granules. No visceral involvement or recurrence has ever been observed after 2-12 years of follow-up. CONCLUSIONS: Because of its self-healing nature, congenital solitary HPH frequency has probably been underestimated. In the absence of systemic involvement, regular physical examination for at least 2 years seems a valid approach.

Isolated congenital histiocytosis in the palpebral conjunctiva in a newborn.

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.

[Intense hemosiderin deposits in a case of self-healing congenital histiocytosis]. / Dépôts hémosidériniques importants au cours d'une histiocytose congénitale auto-involutive.

BACKGROUND: Congenital self healing histiocytosis, described for the first time in 1973 by Hashimoto and Pritzker, is characterized by multiple violaceous brown cutaneous papulonodules present at birth and disappearing spontaneously in 2 to 4 months. There are classically no systemic manifestations and the prognosis is always good. We present a case, particular by the intensity of hemosiderinic deposits. CASE-REPORT: The patient was a 2-month-old female infant. Physical examination at birth revealed a healthy-appearing full-term newborn, with five skin lesions: firm violaceous-reddish pigmented papules and nodules distributed over the head (scalp and forehead), right ear, right forearm and the flexural aspect of the left thigh. There was no hepatosplenomegaly or lymphadenopathy, and the patient's general condition was excellent. Histologic examination confirm the diagnosis by showing a dense polymorphous infiltrate composed of histiocytes associated with giant cells and erythrocytes extravasation. Perls stain was strongly positive. Staining with S100 Protein was positive. Outcome was good with involution of all lesions with atrophic and pigmented scars. DISCUSSION: The patient's excellent general condition, the absence of visceral locations and the spontaneous self healing allows us to classify this form as a benign self healing congenital histiocytosis. This patient presented intensely hemosiderinic deposits giving the lesions a strongly pigmented aspect.

["Blueberry muffin baby"]. / "Blueberry muffin baby".

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.

The non-Langerhans' cell histiocytoses in childhood.

The cutaneous histiocytoses are best divided in the Langerhans' cell histiocytoses and non-Langerhans' cell histiocytoses. In the former group, the cells react with S100 and CD1a antibodies, while in the latter group they express a variety of macrophage markers. Xanthogranuloma is a frequent childhood tumor and the only common non-Langerhans' cell histiocytosis. Xanthogranulomas contain a mixture of several different types of histiocytes that also appear in more pure forms as both solitary tumors and disseminated processes. The varying histiocyte morphology provides a unifying concept for non-Langerhans' cell histiocytoses.

A solitary congenital self-healing histiocytosis. Report of a case and review of the literature.

Congenital self-healing histiocytosis (CSHH), and especially the solitary variant, is a rare primary skin disorder. We report on a newborn with a congenital solitary ulcerated skin nodule. Extracutaneous involvement was not found. A skin biopsy was performed at the age of 44 days and revealed a dense dermal infiltrate of large histiocytic cells. Immunohistochemical study revealed that the cells of the dermal infiltrate were Langerhans' cells which were strongly positive for S- 100 and negative for lysozyme, leukocyte common antigen and alpha-1-antichymotrypsin. The skin lesion involuted spontaneously over the next month without any treatment. The clinical, histopathological and immunohistochemical results fulfilled the criteria of solitary CSHH. We herein report the first case of CSHH in Taiwan and the twelfth case of solitary CSHH in the world.

Congenital self-healing histiocytosis. Report of two cases with histochemical and ultrastructural studies.

Congenital self-healing histiocytosis (CSHH) is a rare primary skin disorder. Of the two cases in newborn infants reported here, one had numerous widespread lesions while the other had a solitary ulcerating scalp nodule. Both neonates were otherwise healthy; neither exhibited either systemic involvement or involvement of mucous membranes. The findings drawn from the skin biopsies, including histology, S-100 positivity in the majority of the cells, and the presence of Birbeck granules, were indistinguishable from those described in infantile Letterer-Siwe disease (histiocytosis X). However, the benign clinical course, with rapid regression of the nodules in both cases, was diagnostic of CSHH.

Congenital histiocytosis. A heterogeneous group of diseases, one presenting as so-called congenital self-healing histiocytosis.

Three cases of congenital histiocytic disorders--generalized Langerhans cell histiocytosis, generalized juvenile xanthogranuloma and so-called congenital self-healing histiocytosis are compared using histiochemical, immunohistochemical and ultrastructural methods. The results showed a typical morphological pattern of Langerhans cell histiocytosis (S 100+, CD 1+, alpha-mannosidase +) with an unusual self-healing cutaneous phenomenon. The congenital self-healing histiocytosis showed a non-Langerhans cell immunophenotype (CD 14+, CD 1-, S 100-) and morphological appearance resembling the evolutive "early" stage of juvenile xanthogranuloma. A diffuse cellular positivity of alpha-mannosidase in juvenile xanthogranuloma and congenital self-healing histiocytosis differed from a typical perinuclear globular positivity of this enzyme in Langerhans cell histiocytosis. It is concluded that congenital self-healing histiocytosis may in some cases be of non-Langerhans cell type and under this term a clinically characteristic syndrome of histiocytic proliferation of Langerhans cells or tissue histiocytes may be included.