Content

»Syndromes with Premature Aging
»Werner Syndrome (Adult Progeria)
»Progeria (Hutchinson–Gilford Syndrome)
»Disorders with Immunodeficiency
»Familial Chronic Mucocutaneous Candidiasis (FCMC)
»Hyper-IgE Syndrome (Job Syndrome)
»Wiskott–Aldrich Syndrome (WAS)
»Severe Combined Immunodeficiency (SCID)
»Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED)
»Disorders of Pigmentation
»Oculocutaneous Albinism (OCA)
»Chédiak–Higashi Syndrome
»Hermansky–Pudlak Syndrome
»Griscelli Syndrome
»Hypomelanosis of Ito
»Incontinentia Pigmenti (Bloch–Sulzberger Syndrome)
»Piebaldism
»Waardenburg Syndrome
»Disorders with Pigmented Lesions
»McCune–Albright Syndrome (Polyostotic Fibrous Dysplasia)
»Russell–Silver Syndrome
»Vascular Disorders
»Sturge–Weber Syndrome (SWS)
»Klippel–Trénaunay Syndrome (KTS)
»Proteus Syndrome
»Cobb Syndrome
»Von Hippel–Lindau Syndrome (VHL)
»Beckwith–Wiedemann Syndrome
»Rubinstein–Taybi Syndrome
»Mafucci Syndrome
»Blue Rubber Bleb Nevus Syndrome (Bean Syndrome)
»Cornelia de Lange Syndrome
»Hereditary Hemorrhagic Telangiectasia (Osler–Weber–Rendu)
»Hereditary Lymphedema (Milroy Disease)
»Lymphedema–Distichiasis Syndrome
»Noonan Syndrome
»Turner Syndrome
»Meige Lymphedema (Hereditary Lymphedema II)

 
 
 

Severe Combined Immunodeficiency (SCID)

  • XLR, deficiency of γ chain of IL2 receptor (IL2RG); AR, defect in tyrosine kinase JAK3 or adenosine deaminase (ADA); heterogeneous disorders with severely impaired humoral and cellular immunity
  • Deficiency or total absence of circulating lymphocytes
 
 
 
 

 

 

 

 

 

© 2024 Skin Disease & Care | All Rights Reserved.