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Congenital self-healing Langerhans cell histiocytosis with persistent cellular immunological abnormalities
B Whitehead1, M Michaels, R Sahni
1The Hospitals for Sick Children, London, U.K.
Insights
This study details a rare infant case of Langerhans cell histiocytosis presenting with severe skin lesions and organ involvement. The condition showed spontaneous resolution of skin manifestations within the first year of life.
Area of Science:
- Dermatology
- Pediatrics
- Immunology
Background:
- Langerhans cell histiocytosis (LCH) is a rare clonal proliferative disorder of myeloid lineage cells.
- Infantile LCH can present with multisystem involvement, including skin, liver, and lymphoid tissues.
Observation:
- An infant presented with extensive hemorrhagic, encrusted skin lesions, hepatomegaly, lymphadenopathy, elevated liver enzymes, leukopenia, and thrombocytopenia.
- Immunohistochemistry confirmed LCH with CD1, S-100, and DR positive cells in skin lesions.
- Skin lesions exhibited spontaneous resolution at 6 weeks, recurrence at 3 months, and self-involution by 9 months.
Findings:
- The diagnosis of Langerhans cell histiocytosis was confirmed via immunohistochemistry.
- Persistent T-cell abnormalities, including lymphopenia and circulating CD1+ cells, were observed during the first year.
- Spontaneous resolution of cutaneous lesions occurred despite ongoing immunological anomalies.
Implications:
- This case highlights the potential for spontaneous resolution in severe infantile LCH.
- Persistent T-cell abnormalities warrant further investigation into their long-term significance in LCH.
- Understanding the natural history and immunological profile of infantile LCH is crucial for management.
Abstract:
We describe an infant who presented at birth with numerous haemorrhagic and encrusted skin lesions, hepatomegaly, lymphadenopathy, raised hepatic transaminases, leucopenia and thrombocytopenia. The diagnosis of Langerhans cell histiocytosis was confirmed by immunohistochemistry, which demonstrated the presence of CD1, S-100 and DR positive cells in the skin infiltrate. The skin lesions resolved spontaneously after 6 weeks but recurred at 3 months and again were self involuting with resolution by 9 months. Persistent circulating T-cell abnormalities, including T-cell lymphopenia and the presence and persistence of peripheral blood CD1 + cells were noted throughout the first year of life.