ABSTRACT
Cutaneous histiocytoses constitute a heterogeneous group of diseases characterised by the cutaneous accumulation of cells with the cytological and phenotypic features of macrophages or dendritic cells. The clinical spectrum ranges from self-resolving, skin-limited conditions to severe, multiorgan disease with a high morbidity rate. Until recently, cutaneous histiocytoses were classified according to the immunophenotype of the pathological cells, with differentiation between Langerhans cell histiocytosis (LCH) [CD1a+, CD207 (langerin)+] and non-Langerhans cell histiocytosis (CD68+, CD163+, CD1a-, CD207-). Over the last 12 years, a number of new pathophysiological findings (in particular, molecular pathology results) regarding histiocytoses have contributed to a new classification based on molecular alterations, as well as on clinical and imaging characteristics and the phenotype. The most frequent entities in children are juvenile xanthogranuloma and LCH.
Subject(s)
Histiocytosis/pathology , Skin/pathology , Child , Disease Progression , Histiocytosis, Langerhans-Cell/pathology , Humans , Xanthogranuloma, Juvenile/pathologyABSTRACT
BACKGROUND: Congenital self-healing reticulohistiocytosis (CSHRH), also called Hashimoto-Pritzker disease, is a rare and benign variant of Langerhans cell histiocytosis, characterized by cutaneous lesions without extracutaneous involvement. CASE PRESENTATION: We present a case of CSHRH with diffuse skin lesions and erosions in the oral mucosa, present since birth and lasting for 2 months, and we perform a review of the literature on Pubmed in the last 10 years. CONCLUSIONS: Our case confirm that lesions on oral mucosa, actually underestimated, may be present in patients with CSHRH. Patients affected by CSHRH require a close follow-up until the first years of life, due to the unpredictable course of Langerhans cell histiocytosis, in order to avoid missing diagnosis of more aggressive types of this disorder.
Subject(s)
Histiocytosis, Langerhans-Cell/congenital , Histiocytosis, Langerhans-Cell/pathology , Biopsy , Humans , Infant, Newborn , Male , Remission, Spontaneous , Skin/pathologyABSTRACT
BACKGROUND: Langerhans cell histiocytosis (LCH) is a rare disease, frequently affecting young children. PROCEDURE: We performed a retrospective study in patients younger than 16 years old manifesting with skin symptoms, and documented their different cutaneous lesions and systemic symptoms. We compared subgroups of children with single-system, skin-only, and multisystem disease and sought signs predictive for multisystem disease. In a small sample of patients, BRAF mutations were analyzed in archived biopsies. RESULTS: A wide spectrum of cutaneous presentations varying from crusted nodules and papules, blisters, vascular tumor-like lesions, scaling orange to red macules (frequently in seborrheic regions) to purpuric macules, and papules was documented in our cohort of 32 children. Otitis externa was a common manifestation and mucosal lesions were seen in three patients. A novel manifestation was a red-blue nodule that appeared in a patient after a vaccination. None of the cutaneous lesions was predictive for the classification or final outcome as a single-system or multisystem disease. However, later onset and a more protracted course of skin lesions were more frequent findings in multisystem LCH. Mucosal lesions and otitis externa were almost exclusively seen in patients with multisystem disease, a finding that warrants further investigation. Both wild-type (WT) and mutated BRAF were found not only in multisystem LCH, but also in skin-only LCH. Two cases with rapidly resolving congenital lesions had WT BRAF. CONCLUSIONS: Late onset and a protracted course of skin lesions are associated with MS-LCH, whereas WT BRAF is found in rapidly resolving skin lesions.
Subject(s)
Histiocytosis, Langerhans-Cell/pathology , Skin/pathology , Female , Humans , Infant , Infant, Newborn , Male , Prognosis , Retrospective StudiesABSTRACT
Congenital self-healing reticulohistiocytosis is a variant of cutaneous Langerhans cell histiocytosis seen in newborns. It is characterized by generalized brownish to erythematous papules or nodules that resolve spontaneously within several weeks to months, without involvement of other organs. Erythematous erosive patches or vesicles are rare clinical features of congenital self-healing reticulohistiocytosis; only 11 cases have been reported in the literature. A newborn female presented with erythematous erosive patches and vesicles on the whole body without systemic symptoms. Histopathologically, multiple lymphocytes and histiocytic cells with kidney shaped nuclei were observed in the dermis. Immunohistochemical stain showed positive reactions for CD1a and S100 in histiocytic cells in the dermis. All lesions involuted spontaneously within a month without treatment. Here we report a rare case of congenital self-healing reticulohistiocytosis presenting as erythematous erosive patches and vesicles, with a literature review.
Subject(s)
Female , Humans , Infant, Newborn , Dermis , Histiocytosis, Langerhans-Cell , Kidney , LymphocytesABSTRACT
Congenital self-healing reticulohistiocytosis is a rare, congenital, benign, self-healing variant of Langerhans cell histiocytosis. It usually appears as multiple papules or nodules; however, occurrence of the solitary type is very rare. We report on a case of solitary congenital self-healing reticulohistiocytosis in a 29-day-old girl who presented with a papule on her sole. Two months later, the lesion regressed with a slight scar. Based upon clinical and histologic findings, we made a diagnosis of solitary congenital self-healing reticulohistiocytosis. In this report, we summarized reported cases of solitary congenital self-healing retioculohistiocytosis in Korea with a review of the literature.
ABSTRACT
Congenital self-healing reticulohistiocytosis is a rare, congenital, benign, self-healing variant of Langerhans cell histiocytosis. It usually appears as multiple papules or nodules; however, occurrence of the solitary type is very rare. We report on a case of solitary congenital self-healing reticulohistiocytosis in a 29-day-old girl who presented with a papule on her sole. Two months later, the lesion regressed with a slight scar. Based upon clinical and histologic findings, we made a diagnosis of solitary congenital self-healing reticulohistiocytosis. In this report, we summarized reported cases of solitary congenital self-healing retioculohistiocytosis in Korea with a review of the literature.
Subject(s)
Cicatrix , Histiocytosis, Langerhans-Cell , KoreaABSTRACT
Congenital self-healing reticulohistiocytosis (CSHRH) typically presents at birth or in the first few weeks of life as a widespread eruption of cutaneous red-brown papulonodules that resolve spontaneously without involvement of other organs. While multiple lesions are common, a solitary lesion is rare. We describe a solitary type of CSHRH in a full-term, male neonate. He had an erythematous papule with a yellowish crust on the left heel without any systemic symptoms. Four weeks later, the skin lesion had disappeared spontaneously.
Subject(s)
Humans , Infant, Newborn , Male , Heel , Parturition , SkinABSTRACT
Congenital self-healing reticulohistiocytosis is a variant of Langerhans cell histiocytosis, and shows spontaneous resolution within 3-4 months. Histopathologically, it is characterized by epidermotropic infiltrates of histiocytes with kidney-shaped nuclei and abundant eosinophilic cytoplasm. We present a female new-born baby with congenital, multiple, erythematous papules containing some vesicles. A skin biopsy showed typical features of Langerhans cell histiocytosis. Her skin lesion is healed spontaneously within 2 months, without scarring.
Subject(s)
Female , Humans , Biopsy , Cicatrix , Cytoplasm , Eosinophils , Histiocytes , Histiocytosis, Langerhans-Cell , SkinABSTRACT
Congenital self-healing reticulohistiocytosis(CSHRH) consists of multiple disseminated papulonodular skin lesions of varying sizes and regress spontaneously in several weeks to months with little or no scarring, and until recently it has been regarded as a benign cutaneous disease without systemic involvement. However, involvement of organ systems other than the skin has been described occasionally and recurrence of disease at sites distant from the skin has been documented. We present a case of CSHRH in a full termed, normal spontaneous vaginal delivered male neonate. He had reddish colored nodules on the whole body without systemic symptoms. Four weeks later, the skin lesions cleared concurrently with bony involvement of the skull. Because multiple organ systems can be involved and recurrences are possible, long-term follow-up of these patients is indicated.
Subject(s)
Humans , Infant, Newborn , Male , Cicatrix , Follow-Up Studies , Recurrence , Skin , SkullABSTRACT
Congenital self-healing reticulohistiocytosis (CSHRH) is a rare Langerhans cell disorder usually showing spontaneous resolution within 3-4 months. By electron microscopy, the identification of Birbeck granules and laminated dense bodies in the infiltrated cells is mandatory for the diagnosis of CSHRH. However, in some reported cases, Birbeck granules could not be demonstrated and only cytoplasmic dense bodies were seen. If the lesion is more advanced, Birbeck granules are transformed to lysosomes, i.e., 'unique phagosomes', in which they are degraded. A 2-month-old Korean girl presented with congenital, numerous red-brown pigmented papules on the left side of trunk and upper extremity without systemic symptoms. A biopsy specimen demonstrated papillary dermis containing epidermotropic infiltrates of histiocytes with abundant eosinophilic cytoplasm. Some had kidney-shaped nuclei and PAS-positive cytoplasmic inclusions. Immunohistochemically, infiltrating cells expressed S-100 protein and ultrastructurally, no Birbeck granules but many dense laminated bodies and unique phagosomes were found. It was ten months since the skin lesions developed that they have started resolving.
Subject(s)
Female , Humans , Infant , Biopsy , Cytoplasm , Dermis , Diagnosis , Eosinophils , Histiocytes , Inclusion Bodies , Lysosomes , Microscopy, Electron , Phagosomes , S100 Proteins , Skin , Upper ExtremityABSTRACT
BACKGROUND: Langerhans cell histiocytosis (LCH) is a broad spectrum of clinical diseases having proliferation of Langerhans cells in common. LCH may be manifested in a variety of ways, ranging from a spontaneously regressing skin lesion to a multisystemic life-threatening disorder. Congenital self-healing reticulohistiocytosis is widely regarded as a limited form of LCH. It is present at birth or shortly thereafter and involute spontaneously. OBJECTIVE: Our purpose was to investigate the relationship between clinicopathologic characteristics and prognosis of LCH in children. METHODS: Six children with LCH were investigated clinically and histopathologically. Immunostains were performed with CD1a and S100 antibodies in 5 cases using paraffin-embedded sections and an electron microscopic examination was done in 1 case. RESULTS: Among the 6 cases of LCH, 4 cases were confined to the skin, and 2 cases showed internal organ involvement. All LCH confined to the skin showed resolution of the skin lesion in 1 year, and 2 cases involving internal organ showed bad prognosis. Histopathological findings showed large histiocytes with eosinophilic cytoplasm in common. Immunohistochemical stains (5 cases) showed positive reactions with CD1a and S-100, and electron- microscopical observation in one case demonstrated laminated dense bodies. There was no significant histopathological or immunohistochemical difference between LCH confined to the skin which showed resolution of lesions and LCH involving internal organs with grave prognosis. CONCLUSIONS: Clinical types of Langerhans cell histiocytosis could not be differentiated only from the histopathological findings of the skin. The distinction between Langerhans cell histiocytosis confined to the skin showing spontaneous resolution and congenital self-healing reticulohistiocytosis remains to be clarified.
Subject(s)
Child , Humans , Antibodies , Coloring Agents , Cytoplasm , Eosinophils , Histiocytes , Histiocytosis, Langerhans-Cell , Langerhans Cells , Parturition , Prognosis , SkinABSTRACT
Congenital self-healing reticulohistiocytosis (CSHRH) is a rare Langerhans cell disorder showing spontaneous resolution within 3-4 months. By electron microscopy, the identification of many Birbeck granules and laminated dense bodies in the infiltrated cells is mandatory for the diagnosis of CSHRH. We describe a case of congenital self-healing reticulohistiocyt~osis in a 4-month-old male infant.
Subject(s)
Humans , Infant , Male , Diagnosis , Microscopy, ElectronABSTRACT
Congenital self healing reticulohistiocytosis was described by Hashimoto and Pritzker in 1973. Hundreds of cases were reported in America and Europe, but cases reported in Korea are rare especially in cases with multiple skin lesions. We present a case of multiple congenital self healing reticulohistiocytosis in a full termed, normal spontaneous vagina1 delivered male neonate. He had erythematous to reklish colored nodules or bullae on his whole body and some of them were hemorrhagic in its appearance. The oral and anogenital mucosae had no lesions. Laboratory tests showed no evidence of intrauterine infections and systemic involvement. The histopathologic examination revealed densley aggregated dermal histiocytes and an absence of epidermis, Infiltrated histiocytes showed a positivity for S-100 protein. About 15% of infiltrated cells had Birbeck granules on an electron microscopic study, Four months later, the skin lesions cleared and there was no evidence of systemic involvement.
Subject(s)
Humans , Infant, Newborn , Male , Americas , Epidermis , Europe , Histiocytes , Korea , Mucous Membrane , S100 Proteins , SkinABSTRACT
We report a case of congenital self-healing reticulohistiocytosis in a newborn male, who showed numerous reddish brown papulonodules on the whole of his body and an extremely large tumor mass on the left sole. No extracutaneous involvement was found. All lesions involuted spontaneously within two months. Histopathologically, multiple histiocytes with abundant eosinophilic cytoplasm, multinucleated cells, and eosinophils were observed in the dermis. Immunohistochemical staining with S-100 protein showed positive.
Subject(s)
Humans , Infant, Newborn , Male , Cytoplasm , Dermis , Eosinophils , Histiocytes , S100 ProteinsABSTRACT
Congenital self-healing reticulohistiocytosis (CSHR) is a rare variant of cutaneous reticulohistiocytosis. We report a newborn who had about 25 reddish brown papulonodular lesions on whole body at birth. No extracutaneous involvement was found. All skin lesions involuted within 4 months spontaneously. Biopsy of a skin lesion showed marked aggregated histiocytic infiltration with some eosinophils. S-100 protein and lysozyme were positive. Electron microscopy revealed numerous dense bodies, often with a myelin-like core and some Birbeck granules. We described a detailed clinical features of this case and reviewed the literatures.
Subject(s)
Humans , Infant, Newborn , Biopsy , Eosinophils , Microscopy, Electron , Muramidase , Parturition , S100 Proteins , SkinABSTRACT
A 2-month-old female infant presented with a single hemorrhagic crusted papule on the chin present since birth. No visceral involvement could be demonstrated. The lesion involuted spontaneously with scarring in 3 months. Mononuclear cells in the cutaneous infiltrate were Langerhans cells with typical Birbeck granules which positively stained with S-100 protein. This case is the solitary type of congenital self-healing reticulohistiocytosis.
