JAK Inhibition in a Patient with X-Linked Reticulate Pigmentary Disorder
نویسندگان
چکیده
منابع مشابه
Oral manifestations in a boy with X-linked reticulate pigmentary disorder
Case report A 3-year-old boy was seen at the Department of Maxillo-Facial Surgery and Paediatric Dentistry of the Children’s Hospital of Trieste. The multi-systemic features of XLPDR included a number of oro-dental manifestations such as misshapen teeth, scissor bite, swallowing difficulties, agenesis of the 4 permanent second premolars, taurodontism, early resorption of deciduous roots, and pr...
متن کاملX-linked reticulate pigmentary disorder with systemic manifestations: a new family and review of the literature.
X-linked reticulate pigmentation disorder with systemic manifestations (XLPDR) is an extremely rare genodermatosis with recessive X-linked inheritance but unknown molecular basis. In males, cutaneous involvement is characterized by reticulate hyperpigmentation of the skin that is associated with a typical facies and severe systemic involvement. In the carrier females, manifestations are apparen...
متن کاملClinical and Genetic Review of Hereditary Acral Reticulate Pigmentary Disorders
Reticulated pigmentation is a unique pigmentary change caused by a heterogeneous group of hereditary and acquired disorders. This pigmentation is characterized by a mottled appearance, with lesions that vary in size and pigmentary content. This review discusses the hereditary group of the reticulated pigmentation disorders, such as dyschromatosis symmetrica hereditaria, dyschromatosis universal...
متن کاملTertiary hyperparathyroidism in a patient with X-linked hypophosphatemic rickets.
A 29-year-old female (Weight=50 kg, Height=152 cm, Body Mass Index= 21.6 Kg/m, target height: 151.5 cm) with symptomatic XLHR (X-linked Hypophosphatemic Rickets) since childhood was referred for evaluation of hypercalcemia. At the age of three years, during evaluation for growth retardation and features of rickets along with hypophosphatemia, she received the diagnosis of XLHR. Family history w...
متن کاملPyoderma Gangrenosum in a Patient with X-Linked Agammaglobulinemia
X-linked agammaglobulinemia (XLA) is a primary immunodeficiency disorder caused by germline mutations of B-cell tyrosine kinase (BTK) gene. It is characterized by decreased serum immunoglobulins levels and circulating mature B cells. This defect in humoral immunity leads to increased susceptibility to infection. Pyoderma gangrenosum (PG) is an uncommon, ulcerating, neutrophilic dermatosis. Here...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Journal of Clinical Immunology
سال: 2020
ISSN: 0271-9142,1573-2592
DOI: 10.1007/s10875-020-00867-7