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Placental sulfatase deficiency

MedGen UID:
404049
•Concept ID:
C2720163
•
Disease or Syndrome
Synonyms: Deficiencies, Steroid Sulfatase; Deficiency, Steroid Sulfatase; Placental Steroid Sulfatase Deficiency; Steroid Sulfatase Deficiencies; Steroid Sulfatase Deficiency; Sulfatase Deficiencies, Steroid; Sulfatase Deficiency, Steroid
SNOMED CT: X-linked placental steryl-sulfatase deficiency (3944006); Placental sulfatase deficiency (X-linked steryl-sulfatase deficiency) in a female (3944006); Steroid sulfatase deficiency (3944006); Placental sulfatase deficiency (3944006); Placental steroidal sulfatase deficiency (3944006)
 
OMIM®: 308100

Definition

A rare genetic skin disease belonging to the Mendelian Disorders of Cornification (MeDOC) and characterized by generalized hyperkeratosis and scaling of the skin. The condition is rather mild. [from ORPHANET]

Professional guidelines

PubMed

Ichthyoses: differential diagnosis and molecular genetics.
Oji V, Traupe H
Eur J Dermatol 2006 Jul-Aug;16(4):349-59. PMID: 16935789
Disorders of keratinization: diagnosis and management.
Shwayder T
Am J Clin Dermatol 2004;5(1):17-29. doi: 10.2165/00128071-200405010-00004. PMID: 14979740
Ichthyosis: etiology, diagnosis, and management.
DiGiovanna JJ, Robinson-Bostom L
Am J Clin Dermatol 2003;4(2):81-95. doi: 10.2165/00128071-200304020-00002. PMID: 12553849

Recent clinical studies

Etiology

Maternal plasma levels of vitamin D in postterm pregnancy.
Erdoğan K, Sanlier NT, Çelik B, Arslan B, Diktaş G, Yücel Çelik Ö, Köse C, Engin-Üstün Y
J Obstet Gynaecol 2022 Aug;42(6):1996-2000. Epub 2022 Jun 2 doi: 10.1080/01443615.2022.2062226. PMID: 35653770
Undetectable maternal serum unconjugated estriol levels in the second trimester: risk of perinatal complications associated with placental sulfatase deficiency.
Bradley LA, Canick JA, Palomaki GE, Haddow JE
Am J Obstet Gynecol 1997 Mar;176(3):531-5. doi: 10.1016/s0002-9378(97)70542-8. PMID: 9077601
Pregnancy outcome for women with very low levels of maternal serum unconjugated estriol on second-trimester screening.
Schleifer RA, Bradley LA, Richards DS, Ponting NR
Am J Obstet Gynecol 1995 Oct;173(4):1152-6. doi: 10.1016/0002-9378(95)91343-2. PMID: 7485310
Placental steroid metabolism in a case of placental sulfatase deficiency.
Gips H, Bailer P, Korte K
J Endocrinol Invest 1980 Jan-Mar;3(1):51-8. doi: 10.1007/BF03348217. PMID: 6445378
Diagnosis of placental sulfatase deficiency.
Tabei T, Heinrichs WL
Am J Obstet Gynecol 1976 Feb 15;124(4):409-14. doi: 10.1016/0002-9378(76)90102-2. PMID: 130074

Diagnosis

Placental sulfatase deficiency: maternal and fetal expression of steroid sulfatase deficiency and X-linked ichthyosis.
Bradshaw KD, Carr BR
Obstet Gynecol Surv 1986 Jul;41(7):401-13. PMID: 3531932
X-linked ichthyosis and X-linked placental sulfatase deficiency: a disease entity. Histochemical observations.
Jöbsis AC, De Groot WP, Tigges AJ, De Bruijn HW, Rijken Y, Meijer AE, Marinkovic-Ilsen A
Am J Pathol 1980 May;99(2):279-89. PMID: 6929654Free PMC Article
Placental sulfatase deficiency: clinical and biochemical study of 16 cases.
Bedin M, Alsat E, Tanguy G, Cedard L
Eur J Obstet Gynecol Reprod Biol 1980 Jan;10(1):21-34. doi: 10.1016/0028-2243(80)90033-7. PMID: 6444901
Placental sulfatase deficiency: a case study.
Osathanondh R, Canick J, Ryan KJ, Tulchinsky D
J Clin Endocrinol Metab 1976 Jul;43(1):208-14. doi: 10.1210/jcem-43-1-208. PMID: 133115
Diagnosis of placental sulfatase deficiency.
Tabei T, Heinrichs WL
Am J Obstet Gynecol 1976 Feb 15;124(4):409-14. doi: 10.1016/0002-9378(76)90102-2. PMID: 130074

Therapy

Congenital hypopituitarism as a cause of undetectable estriol levels in the maternal triple-marker screen.
Marshall I, Ugrasbul F, Manginello F, Wajnrajch MP, Shackleton CH, New MI, Vogiatzi MV
J Clin Endocrinol Metab 2003 Sep;88(9):4144-8. doi: 10.1210/jc.2003-030495. PMID: 12970278

Prognosis

Low estriol levels in the maternal triple-marker screen as a predictor of isolated adrenocorticotropic hormone deficiency caused by a new mutation in the TPIT gene.
Weintrob N, Drouin J, Vallette-Kasic S, Taub E, Marom D, Lebenthal Y, Klinger G, Bron-Harlev E, Shohat M
Pediatrics 2006 Feb;117(2):e322-7. Epub 2006 Jan 3 doi: 10.1542/peds.2005-1973. PMID: 16390921
Prediction of X-linked recessive ichthyosis due to placental sulfatase deficiency. A case report.
Meyer JC, Gilardi S, Schneider H, Mieth D, Schnyder UW
G Ital Dermatol Venereol 1987 Jun;122(6):285-8. PMID: 3623622
Placental sulfatase deficiency: a case study.
Osathanondh R, Canick J, Ryan KJ, Tulchinsky D
J Clin Endocrinol Metab 1976 Jul;43(1):208-14. doi: 10.1210/jcem-43-1-208. PMID: 133115

Clinical prediction guides

Low estriol levels in the maternal triple-marker screen as a predictor of isolated adrenocorticotropic hormone deficiency caused by a new mutation in the TPIT gene.
Weintrob N, Drouin J, Vallette-Kasic S, Taub E, Marom D, Lebenthal Y, Klinger G, Bron-Harlev E, Shohat M
Pediatrics 2006 Feb;117(2):e322-7. Epub 2006 Jan 3 doi: 10.1542/peds.2005-1973. PMID: 16390921
Placental steroid deficiency: association with arylsulfatase A deficiency.
Vidgoff J, Buxman MM, Shapiro LJ, Dimond RL, Wilson TG, Hepburn CA, Tabei T, Heinrichs WR
Am J Hum Genet 1982 May;34(3):434-43. PMID: 6123259Free PMC Article
X-linked ichthyosis and X-linked placental sulfatase deficiency: a disease entity. Histochemical observations.
Jöbsis AC, De Groot WP, Tigges AJ, De Bruijn HW, Rijken Y, Meijer AE, Marinkovic-Ilsen A
Am J Pathol 1980 May;99(2):279-89. PMID: 6929654Free PMC Article
Placental sulfatase deficiency: clinical and biochemical study of 16 cases.
Bedin M, Alsat E, Tanguy G, Cedard L
Eur J Obstet Gynecol Reprod Biol 1980 Jan;10(1):21-34. doi: 10.1016/0028-2243(80)90033-7. PMID: 6444901
Diagnosis of placental sulfatase deficiency.
Tabei T, Heinrichs WL
Am J Obstet Gynecol 1976 Feb 15;124(4):409-14. doi: 10.1016/0002-9378(76)90102-2. PMID: 130074

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