Prenatal diagnosis of tyrosinase-negative oculocutaneous albinism by an electron microscopic dopa reaction test of fetal skin

1994 ◽  
Vol 14 (6) ◽  
pp. 443-450 ◽  
Author(s):  
Hiroshi Shimizu ◽  
Akira Ishiko ◽  
Arata Kikuchi ◽  
Masashi Akiyama ◽  
Kaoru Suzumori ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Oculocutaneous Albinism ◽  
Fetal Skin ◽  
Electron Microscopic ◽  
Reaction Test

scholarly journals Prenatal Diagnosis of Oculocutaneous Albinism by Electron Microscopy of Fetal Skin

1983 ◽  
Vol 80 (3) ◽  
pp. 210-212 ◽  
Author(s):  
Robin A.J. Eady ◽  
David B. Gunner ◽  
Alec Garner ◽  
Charles H. Rodeck
Keyword(s):  
Electron Microscopy ◽  
Prenatal Diagnosis ◽  
Oculocutaneous Albinism ◽  
Fetal Skin

Electron microscopic DOPA reaction test for oculocutaneous albinism

2000 ◽  
Vol 292 (6) ◽  
pp. 301-305 ◽  
Author(s):  
Y. Takizawa ◽  
Shingo Kato ◽  
Jun Matsunaga ◽  
Ryoji Aozaki ◽  
Yasushi Tomita ◽  
...  
Keyword(s):  
Oculocutaneous Albinism ◽  
Electron Microscopic ◽  
Reaction Test

Prenatal Diagnosis of Oculocutaneous Albinism Type I: Review and Personal Experience

1999 ◽  
Vol 2 (5) ◽  
pp. 404-414 ◽  
Author(s):  
Eliezer Rosenmann ◽  
Ada Rosenmann ◽  
Zvi Ne'eman ◽  
Aby Lewin ◽  
Idit Bejarano-Achache ◽  
...  
Keyword(s):  
At Risk ◽  
Prenatal Diagnosis ◽  
Low Vision ◽  
Molecular Genetic ◽  
Electron Microscopic Examination ◽  
Oculocutaneous Albinism ◽  
Type I ◽  
Electron Microscopic ◽  
Direct Mutation ◽  
Fetal Scalp

Oculocutaneous albinism type I (OCA I) comprises autosomal recessive syndromes of hypopigmentation and low vision, caused by the lack of tyrosinase activity. Affected families seek genetic counseling and prenatal diagnosis as preventive measures. Until recently, prenatal diagnosis of OCA I was achieved by histologic and electron microscopic examination of fetal skin biopsies. Lately, a molecular genetic approach has become possible by the identification of the two mutated copies of the TYR gene, coding the tyrosinase, in which over 60 mutations have been identified. We report here our experience in prenatal diagnosis of OCA I using the two strategies. Thirty-four prenatal tests were performed in fetuses at risk for OCA I. In 31 cases the diagnosis was made in fetal scalp biopsies using the histological approach. The microscopic observations revealed normal melanogenesis in 26 biopsies. Five albino fetuses were diagnosed by the demonstration of arrest of melanogenesis in early stages I and II. In three pregnancies, molecular genetic tests were performed on DNA extracted from amniocytes, using direct mutation analysis (in one), and complemented by linkage analysis (in two). One albino and two normally pigmented fetuses were diagnosed. The prenatal molecular genetic test can be applied to families when at least one mutation is diagnosed in the albino patient. The histological approach is applicable in all families at risk for OCA I.

Prenatal diagnosis of genetic skin disease using fetal skin biopsy: 10 years'experience

1990 ◽  
Vol 123 (s37) ◽  
pp. 37-37
Author(s):  
R.A.J. Eady ◽  
D.B. Gunner ◽  
B.D. Lake ◽  
A.H.M. Heagerty ◽  
O.M.V. Schofield ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Skin Biopsy ◽  
Skin Disease ◽  
Fetal Skin

A Rare Case of Hermansky-Pudlak Syndrome Involving Bilateral Lung: Histopathologic and Electron Microscopic Findings

2019 ◽  
Vol 152 (Supplement_1) ◽  
pp. S42-S43
Author(s):  
Atreyee Basu ◽  
Surya Seshan ◽  
Luis Angel ◽  
Andre Moreira ◽  
Fang Zhou
Keyword(s):  
Alveolar Macrophages ◽  
Lamellar Body ◽  
Oculocutaneous Albinism ◽  
Electron Microscopic ◽  
Restrictive Lung Disease ◽  
Breath Sounds ◽  
Membrane Bound ◽  
Hermansky Pudlak Syndrome ◽  
Bilateral Lung ◽  
End Stage

Abstract Introduction Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive hereditary disorder characterized by oculocutaneous albinism and bleeding diathesis. Transplantation is often conducted to treat lung fibrosis, which is the most fatal complication of this disease. While the literature discusses the diagnosis of HPS based on genetic testing, radiology, and electron microscopic (EM) findings of platelet granules, there is a paucity of images in the literature illustrating the pulmonary histopathologic and EM features of HPS. Case Report Here we present striking histopathologic and EM images from a case of pulmonary fibrosis due to HPS in a 48-year-old female. The patient presented with restrictive lung disease and bilateral decreased breath sounds with diffuse crackles. She was clinically diagnosed with HPS and underwent bilateral lung transplant. On histopathology, both pneumonectomy specimens showed diffuse interstitial fibrosing and cellular pneumonitis with end-stage remodeling and type II pneumocyte (PC-II) hyperplasia. The PC-IIs had abundant foamy cytoplasm and compressed scalloped nuclei. Alveolar macrophages contained fine brown granules positive for PAS-D stain. EM analysis revealed that the PC-IIs contained numerous lamellated myelin bodies (so-called giant lamellar body degeneration) suggestive of surfactant admixed with lipid and luminal microvilli. The pigmented alveolar macrophages also contained lamellated myelin bodies, as well as clusters of single membrane-bound structures with varying size and electron density admixed with vacuolar and granular debris suggestive of ceroid deposits. Conclusion Based on light microscopy, histochemical analysis, EM, and clinical presentation, it was concluded that our findings were consistent with pulmonary changes as seen in HPS.

scholarly journals DNA-based prenatal diagnosis of a Korean family with tyrosinase-related oculocutaneous albinism (OCA1)

1997 ◽  
Vol 42 (4) ◽  
pp. 499-505 ◽  
Author(s):  
Seung-Taek Lee ◽  
Sang-Kyu Park ◽  
Haeyul Lee ◽  
Jin-Sung Lee ◽  
Yong-Won Park
Keyword(s):  
Prenatal Diagnosis ◽  
Oculocutaneous Albinism ◽  
Korean Family

Prenatal diagnosis of oculocutaneous albinism by tyrosinase gene analysis

1993 ◽  
Vol 6 (1) ◽  
pp. 37
Author(s):  
Hiroshi Shimizu ◽  
Hironori Niizeki ◽  
Kaoru Suzumori ◽  
Ryoji Aozaki ◽  
Ryuji Kawaguchi ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Oculocutaneous Albinism ◽  
Gene Analysis ◽  
Tyrosinase Gene

DNA-based carrier detection and prenatal diagnosis of tyrosinase-negative oculocutaneous albinism (OCA1A)

1995 ◽  
Vol 15 (4) ◽  
pp. 345-349 ◽  
Author(s):  
Tzipora C. Falik-Borenstein ◽  
Stuart A. Holmes ◽  
Zvi Borochowitz ◽  
Abi Levin ◽  
A. Rosenmann ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Oculocutaneous Albinism ◽  
Carrier Detection
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