Celiac disease, phylloid hypomelanosis and autoimmune thyroiditis: a case report. 2015

Mahya Sultan Tosun, and Vildan Ertekin
Pediatric Gastroenterology Unit, Denizli State Hospital, Denizli, Turkey. mahyasultan@hotmail.com.

Pigmentary mosaicism is a term used to encompass all of these different types of pigmentary patterns. Among these mosaic patterns, there have been only a few reports of the phylloid presentation in the literature. On the other hand, autoimmune disorders can be associated with neurocutaneous markers and syndromes. A fifteen-year-old girl was presented for chronic diarrhea and abdominal pain. Her physical examination had determined multiple hypopigmented patches. Finally, she was diagnosed phylloid hypomelanosis together with partial trisomy 13 accompanying celiac disease and autoimmune thyroiditis.

UI MeSH Term Description Entries
D009030 Mosaicism The occurrence in an individual of two or more cell populations of different chromosomal constitutions, derived from a single ZYGOTE, as opposed to CHIMERISM in which the different cell populations are derived from more than one zygote.
D002446 Celiac Disease A malabsorption syndrome that is precipitated by the ingestion of foods containing GLUTEN, such as wheat, rye, and barley. It is characterized by INFLAMMATION of the SMALL INTESTINE, loss of MICROVILLI structure, failed INTESTINAL ABSORPTION, and MALNUTRITION. Gluten Enteropathy,Sprue, Celiac,Sprue, Nontropical,Celiac Sprue,Gluten-Sensitive Enteropathy,Sprue,Disease, Celiac,Enteropathies, Gluten,Enteropathies, Gluten-Sensitive,Enteropathy, Gluten,Enteropathy, Gluten-Sensitive,Gluten Enteropathies,Gluten Sensitive Enteropathy,Gluten-Sensitive Enteropathies,Nontropical Sprue
D002882 Chromosomes, Human, Pair 13 A specific pair of GROUP D CHROMOSOMES of the human chromosome classification. Chromosome 13
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000073839 Trisomy 13 Syndrome A chromosome disorder associated with TRISOMY of all or part of CHROMOSOME 13. Clinical manifestations include CONGENITAL HEART DEFECTS (e.g., PATENT DUCTUS ARTERIOSUS), facial malformations (e.g., CLEFT LIP; CLEFT PALATE; COLOBOMA; MICROPHTHALMIA); HYPOTONIA, digit malformations (e.g., POLYDACTYLY or SYNDACTYLY), and SEIZURES and severe INTELLECTUAL DISABILITY associated with NERVOUS SYSTEM MALFORMATIONS. Bartholin-Patau Syndrome,Chromosome 13 Duplication,Chromosome 13 Trisomy Syndrome,Complete Trisomy 13 Syndrome,Mosaic Trisomy 13 Syndrome,Patau Syndrome,Patau's Syndrome,Trisomy 13,Trisomy 13 Syndromes,Bartholin Patau Syndrome,Chromosome 13 Duplications,Duplication, Chromosome 13,Pataus Syndrome
D000293 Adolescent A person 13 to 18 years of age. Adolescence,Youth,Adolescents,Adolescents, Female,Adolescents, Male,Teenagers,Teens,Adolescent, Female,Adolescent, Male,Female Adolescent,Female Adolescents,Male Adolescent,Male Adolescents,Teen,Teenager,Youths
D013967 Thyroiditis, Autoimmune Inflammatory disease of the THYROID GLAND due to autoimmune responses leading to lymphocytic infiltration of the gland. It is characterized by the presence of circulating thyroid antigen-specific T-CELLS and thyroid AUTOANTIBODIES. The clinical signs can range from HYPOTHYROIDISM to THYROTOXICOSIS depending on the type of autoimmune thyroiditis. Autoimmune Thyroiditis,Thyroiditis, Lymphocytic,Thyroiditis, Lymphomatous,Autoimmune Thyroiditides,Lymphocytic Thyroiditides,Lymphocytic Thyroiditis,Lymphomatous Thyroiditides,Lymphomatous Thyroiditis,Thyroiditides, Autoimmune,Thyroiditides, Lymphocytic,Thyroiditides, Lymphomatous
D014314 Trisomy The possession of a third chromosome of any one type in an otherwise diploid cell. Partial Trisomy,Chromosomal Triplication,Chromosomal Triplications,Partial Trisomies,Trisomies,Trisomies, Partial,Trisomy, Partial
D017496 Hypopigmentation A condition caused by a deficiency or a loss of melanin pigmentation in the epidermis, also known as hypomelanosis. Hypopigmentation can be localized or generalized, and may result from genetic defects, trauma, inflammation, or infections. Hypomelanosis,Hypomelanoses

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