By Disease Name > Congenital Self-Healing Reticulohistiocytosis

Histiocytosis X

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•AKA Langerhans Cell Histiocytosis
•the disseminated form is seen almost exclusively in children <3 years old
•the localized forms are more common in older children
•also seen in adults

 

hmtoggle_plus1Langerhans cells:
•= dendritic cells in the epidermis which are of mesenchymal lineage by way of bone marrow derived precursors
•Birbeck granules (tennis rackets) seen with electron microscopy; represents invaginations of the cell membrane
•CD1a and S-100 positive

 

clinical:

 

Skin lesions may comprise any combination or all of the following:

•crusting of the scalp (suggesting  seb derm)
•ulcerated granulomatous lesions of the buccal mucosa or inguinal, perineal, or vulvar lesions
•scaly, rose-yellow, reddish brown papules (location: scalp, especially above and behind ears, “seborrheic areas”, perineum, palms and soles)
•erosive intertrigo; perianal erosions
•erosions and purpuric lesions (thrombocytopenia secondary to bone marrow invasion)
•IN GENERAL, an unusual or recalcitrant diaper rash should alert the physician to consider the diagnosis (the presence of petechiae or palm/sole lesions are particularly helpful signs)

 

systemic findings:

•hepatosplenomegaly, lymphadenopathy, diffuse pulmonary infiltrate, bone lesions, pancytopenia
•other findings: buccal and gingival ulcerations, chronic recurrent otitis media
•death if untreated  (treatment:  chemotherapy or bone marrow transplant)

 

differential diagnosis:

•seborrheic dermatitis
•leukemia / HIV (the whole picture)
•candidal diaper dermatitis
•streptococcal perianal dermatitis

 

clinical forms (spectrum):

 

hmtoggle_plus1Letterer- Siwe disease (disseminated):
•the acute disseminated form of the disease
•often infants <3 years old
•in infants, vesicular or crusted papules may predominate
•purpura of the palms – a finding seldom seen in other skin diseases; poor prognosis
•in general, implies a fatal outcome,  though coarse varies and may evolve into a more chronic phase such as Hand-Schuller-Christian

 

hmtoggle_plus1Hand-Schüller-Christian Disease (clinical triad):
1.bone lesions (osteolytic defects)*
2.diabetes insipidus
3.exophthalmos
•*xray = geographic skull (sharply defined areas of osseus rarefaction)
•erosion of tooth bearing portion of mandible with loosening or extrusion of teeth

 

hmtoggle_plus1Eosinophilic granuloma (localized):
•consists of a solitary bone lesion; strong tendency to spontaneous remission
•often goes undetected until a spontaneous fracture or incidental xray
•skin lesions relatively rare

 

hmtoggle_plus1Congenital self-healing reticulohistiocytosis
•lesions present at birth as papules and nodules
•spontaneously resolve with 2 to 3 months
•confined to skin and mucous membranes (i.e. no systemic involvement)