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Disorders of pigmentation
Published in Rashmi Sarkar, Anupam Das, Sumit Sethi, Concise Dermatology, 2021
There are several other types of albinism, most of which are recessive. In the Hermanski–Pudlak syndrome, there is an associated clotting defect due to a platelet abnormality. Patients have a bleeding tendency, interstitial pulmonary fibrosis, and granulomatous colitis. This is ‘tyrosinase positive’ and hair bulbs turn black after they are incubated with l-DOPA. Chediak–Higashi syndrome is characterized by severe immunodeficiency and silvery-white hair, and the histology is classical, showing giant melanosomes within melanocytes. Griscelli syndrome, on the other hand, is a severe immunological disorder with hemophagocytic syndrome in addition to having silvery-white hairs and pigmentary dilution of skin. Waardenburg syndrome is a distinct entity manifesting as achromia of skin, hairs, and eyes, heterochromia iridis, congenital deafness, broad nasal root, and dystopia canthorum. The hallmark finding in piebaldism is white forelock and the presence of normal skin within the depigmented patches.
Delayed diagnosis of Griscelli syndrome type 2 with compound heterozygote RAB27A variants presenting with pulmonary failure
Published in Pediatric Hematology and Oncology, 2021
Yoav H. Messinger, Tamara C. Pozos, Anne G. Griffiths, William A. Mize, Damon R. Olson, Angela R. Smith
Griscelli syndrome type 2 (GS2) is caused by mutations of the RAB27A gene and can be complicated by hemophagocytic lymphohistiocytosis (HLH) at a very young age. A 14 year-old girl with prior history of demyelinating brain lesions developed multiorgan failure with severe respiratory failure. Lung biopsy was non-diagnostic. Whole exome sequencing revealed compound heterozygote RAB27A variants. Clinical and laboratory signs suggested HLH and she was treated with dexamethasone and etoposide with rapid respiratory recovery. She underwent unrelated stem-cell transplantation and is alive and healthy 3 years after transplantation. Unique to this case are her delayed presentation of HLH in GS2 with respiratory failure and the identification of her 20 year old sister who has identical RAB27A variants yet is healthy without need for bone marrow transplantation.
Secondary hemophagocytic lymphohistiocytosis in pediatric patients: a single center experience and factors that influenced patient prognosis
Published in Pediatric Hematology and Oncology, 2019
Melahat Melek Oguz, Gurses Sahin, Esma Altinel Acoglu, Emine Polat, Husniye Yucel, Fatma Zehra Oztek Celebi, Hilal Unsal, Meltem Akcaboy, Eyup Sari, Saliha Senel
The total number of patients with HLH in the study period was 32. We have ruled out 5 cases regarding primary HLH. These cases were as follows: 2 had familial HLH type 2, 2 had Chediak–Higashi syndrome and 1 had Griscelli Syndrome. Two of the patients were excluded because of primary immunodeficiency cases (SCID and Di George syndrome). And finally one of the patients was ruled out due to having a sibling with a history of HLH. Among the remaining 24 patients which were considered as having secondary HLH (who met the inclusion criteria) were included in the current study. Additionally, we employed a genetic analysis regarding two genes (PRF1 and STX11) on 12 of the 24 patients with the result of no mutation (Tables 1 and 3).
Malignancy post-hematopoietic stem cell transplant in patients with primary immunodeficiency
Published in Expert Review of Clinical Immunology, 2020
In Unni et al.’s study, two patients lost donor engraftment in whole blood or B-cell and myeloid cell lineages before the onset of Philadelphia positive acute lymphoblastic leukemia in one and juvenile myelomonocytic leukemia in another. Both malignancies were confirmed to be recipient in origin. The first patient had RAG 2 deficiency and the second Griscelli syndrome, both of which predispose to malignancy. Alternatively, recipient stem cells surviving chemotherapy may have acquired genotoxic insults. Therefore, the question arises that if they had had full donor chimerism this may not have happened.