Tetraploid–diploid mosaicism in a patient with pigmentary anomalies of hair and skin: a new dermatologic feature
نویسندگان
چکیده
Tetraploid-diploid mosaicism in humans is exceedingly rare. We present an 11-year-old boy with tetraploid-diploid mosaicism and coexistent hair hypopigmentation with skin hypo- and hyperpigmentation. This case expands the current literature as we are not aware of previous documentation of this unique combination of pigmentary anomalies.
منابع مشابه
Scar due to Sulfur Mustard gas on thigh with cherry angiomas, decreased hair growth and pigmentary disorder: A case report
Sulfur mustard or mustard gas has been widely used as a chemical weapon in the first world war and Iraq-Iran war. It causes acute and chronic complications in lungs, eyes and skin. In skin, mustard is toxic, mutagenic, and carcinogenic via alkylation of cellular proteins in enzymes, cell membranes, cytoplasm and particularly cell nucleus as well as in DNA components of the epidermis, dermis and...
متن کاملDo you know this syndrome? Dyspigmentation along the Blaschko lines caused by trisomy 7 mosaicism*
Dyspigmentation along the Blaschko lines is strongly suggestive of a mosaic skin disorder. We report a 9-year-old male patient who presented with swirls and streaks of both hypo and hyperpigmentation involving the entire body. Additionally, he had hypertrichosis, musculoskeletal and minor neurodevelopment abnormalities but no intellectual disability. Cultured fibroblast displayed trisomy 7 mosa...
متن کاملگزارش یک مورد سندروم واردنبرگنوع دو (گزارش مورد)
Waardenburg syndrome (WS) is a rare disease characterized by sensor neural deafness in association with pigmentary anomalies and defects of neural-crest-derived tissues. WS is caused by mutations in the microphthalmia-associated with transcription factor gene. This case is a 10 month old infant girl in which during a routine physical examination found that she has hetetrochromia and unilate...
متن کاملEvaluation of triploid↔diploid and trisomy-3↔diploid mouse chimeras as models for investigating how lineage restriction occurs in confined placental mosaicism
Human confined placental mosaicism (CPM), where the placental trophoblast is mosaic for a chromosome abnormality but the fetus is chromosomally normal, can cause problems for prenatal diagnosis, but its causes are poorly understood. Tetraploid<-->diploid chimeras provide a model for the development of one type of CPM, but animal models for other types of restricted mosaicism are needed. The obj...
متن کاملReport of a Case with Trisomy 9 Mosaicism
Trisomy 9 is a rare chromosome disorder with high neonatal mortality. It is often seen in mosaic form. Most patients who survive are severely mentally retarded. The main features of this syndrome are "bulbous" nose, microphthalmia, dislocated limbs, and other anomalies of skeletal, cardiac, genitourinary, and central nervous system. Most patients have developmental and cognitive impairment. Pat...
متن کامل