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Sjogren syndrome
Sjogren syndrome is an autoimmune disease that mainly affects the exocrine glands. It is clinically characterized by keratoconjunctivitis sicca and xerostomia (Goransson et al., 2006). See 200400 for association of Sjogren syndrome with achalasia in sisters. [from OMIM]
Peeling skin syndrome
Peeling skin syndrome is a rare genodermatosis with variable age of onset from birth to adulthood. Clinically, it is characterized by a pruritic or nonpruritic spontaneous superficial peeling of the skin, which sometimes is accompanied by erythema or vesiculation. The skin involvement is usually general, but in some patients the scalp, face, palms, and soles may be unaffected. Seasonal changes have been reported. The histologic picture is characterized by separation of the epidermis between the statum corneum and the stratum granulosum (summary by Hacham-Zadeh and Holubar, 1985). Generalized PSS has been subclassified into a noninflammatory type, designated type A, and an inflammatory type, designated type B (Traupe, 1989; Judge et al., 2004). Type B, in which generalized peeling skin is associated with pruritus and atopy, is characterized by lifelong patchy peeling of the entire skin with onset at birth or shortly thereafter. Several patients have been reported with high IgE levels (summary by Oji et al., 2010). Type A, a continuous nonerythematous exfoliation, is usually congenital or appears during childhood (summary by Mallet et al., 2013). Genetic Heterogeneity of Peeling Skin Syndrome Peeling skin syndrome-2 (PSS2; 609796), an acral form of the disorder that mainly involves palmar and plantar skin, is caused by mutation in the TGM5 gene (603805) on chromosome 15q15. Peeling skin syndrome-3 (PSS3; 616265) has been mapped to chromosome 19q13. Peeling skin syndrome-4 (PSS4; 607936) is caused by mutation in the CSTA gene (184600) on chromosome 3q21. Peeling skin syndrome-5 (PSS5; 617115) is caused by mutation in the SERPINB8 gene (601697) on chromosome 18q22. PSS6 (618084) is caused by mutation in the FLG2 gene (616284) on chromosome 1q21. [from OMIM]
Peeling skin syndrome 1
A group of rare autosomal recessive forms of ichthyosis with clinical characteristics of superficial, asymptomatic, spontaneous peeling of the skin and histologically by a shedding of the outer layers of the epidermis. Presents with either an acral or a generalised distribution. [from SNOMEDCT_US]
Potocki-Shaffer syndrome
Potocki-Shaffer syndrome is a rare contiguous gene deletion syndrome due to haploinsufficiency of the 11p12-p11.2 region and is characterized by craniofacial abnormalities, developmental delay, intellectual disability, multiple exostoses (168500), and biparietal foramina (609597) (summary by Swarr et al., 2010). [from OMIM]
Genetic predisposition
A latent susceptibility to disease at the genetic level, which may be activated under certain conditions. [from MONDO]
Oligoarthritis
A type of arthritis that affects up to four joints in the first six months of disease. [from HPO]
Epiphora
Abnormally increased lacrimation, that is, excessive tearing (watering eye). [from HPO]
Polyarticular arthritis
Pain and inflammation in more than five joints. [from NCI]
Xerostomia
Dryness of the mouth due to salivary gland dysfunction. [from HPO]
Arthropathy
Any disorder of the joints. [from NCI]
Mouth disorder
A non-neoplastic or neoplastic disorder that affects the oral cavity or the lips. Representative examples include inflammatory disorders, precancerous conditions, and carcinomas. [from NCI]
Lacrimal apparatus disorder
A non-neoplastic or neoplastic disorder that affects the lacrimal gland and/or the lacrimal drainage system. [from NCI]
Rheumatoid arthritis
Rheumatoid arthritis is an inflammatory disease, primarily of the joints, with autoimmune features and a complex genetic component. [from OMIM]
Arthritis
Inflammation of a joint. [from HPO]
Connective tissue disorder
A non-neoplastic or neoplastic disorder that affects the connective tissue. [from NCI]
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