Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019621 (Langerhans cell histiocytosis)
 3,250 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Seven cases of congenital Langerhans' cell histiocytosis (LH) are reported, with emphasis on clinical and immunohistochemical features. This is a polymorphic disease at birth. In 4/7 cases, the diffuse, generalized rash could be classified as cutaneous Letterer-Siwe disease (LSD); 3/4 remained purely cutaneous and healed in less than 3 months; whereas the fourth-one persisted, pulmonary lesions appeared, and the infant died on his 40th day. In 3/7 cases, the clinical diagnosis at birth was either a Blueberry Muffin Baby (BMB) or Hashimoto-Pritzker type LH (HPLH); the lesions healed rapidly, although one cas was contradictory: typical BMB at birth, histology mimicking a monoblastic cutaneous leukemia, no T.O.R.C.H. syndrome, normal bone marrow, immunophenotyping of LH, auto-involution; 2/3 were MZ twins, both with few lesions. We would like to stress the fact that the clinical spectrum of LH should include BMB, which, however, in most cases must be considered a differential diagnosis. Regarding cutaneous congenital LH, an eponymic classification (LSD, HPLH) is difficult to follow strictly, because overlapping pictures are observed. There is a wide spectrum of cutaneous congenital LH. The main problem at birth is the lack of prognostic criteria. Neither the presence of the rash at birth, nor its type and extension, is necessarily evidence of risk of systemic disease. Cases of HPLH involute, as also do cases of cutaneous LSD, and the "Blueberry Muffin" type of LH; overlapping clinical aspects exist. Histopathological data, electron microscopy or immunohistochemistry, define LH, but they do not enable the outcome to be predicted.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Congenital cutaneous Langerhans histiocytosis. Apropos of 7 cases]. 160 6

An 8-month-old male infant presented with a progressively worsening generalized rash of 5-6 months duration, fever, poor feeding, and abdominal distension. An initial laboratory workup revealed anemia, thrombocytopenia, and hepatosplenomegaly. The patient was started on i.v. antibiotics, and a working diagnosis of Langerhans cell histiocytosis was reached that was later confirmed with a skin biopsy. Subsequently, the patient received first-round chemotherapy with vinblastine and prednisone, on which he appeared to improve clinically; however, he soon relapsed. He then received combination salvage therapy with cladribine (2CdA) and cytarabine (Ara-C) for three cycles. The patient responded well to this regimen with resolution of his condition. The patient was then referred for a bone marrow transplant.
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PMID:Langerhans cell histiocytosis, a case of Letterer Siwe disease. 1978 12

Langerhans cell histiocytosis (LCH) is a rare proliferative disorder of the Langerhans cells, which are part of the mononuclear phagocytic system. The disorder varies in terms of the extent of the disease, its natural course and patient outcomes. While skin rashes are a common presentation of neonatal LCH, other systems or organs may also be involved. Delays in the diagnosis of neonatal LCH may occur due to its non-specific presentation and a lack of awareness of the condition among doctors. We report a two-month-old male neonate who presented to the Chacha Nehru Bal Chikitsalya hospital, New Delhi, India, in 2016 after the onset of pulmonary symptoms. He had been noted to have a generalised rash which had progressively worsened from 15 days of age. Following a skin biopsy and chest imaging, he was diagnosed with multisystem LCH with risk organ involvement. There was a delayed response to combined chemotherapy with no major side-effects.
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PMID:Delayed Treatment Response in a Neonate with Multisystem Langerhans Cell Histiocytosis Case report and review of literature. 2869 Aug 98