scholarly journals Pseudoxanthoma Elasticum: Report of Two Cases

2021 ◽  
pp. 230-237
Author(s):  
Israel Antonio Esquivel-Pinto ◽  
Maria Elisa Vega-Memije ◽  
Araceli Alvarado-Delgadillo ◽  
Andres Eduardo Campuzano-Garcia ◽  
Amairani Manríquez-Robles
Keyword(s):  
Early Diagnosis ◽  
Rare Disease ◽  
Autosomal Recessive ◽  
Genetic Defect ◽  
Autosomal Recessive Inheritance ◽  
Pseudoxanthoma Elasticum ◽  
Elastic Fibers ◽  
Elastic Tissue ◽  
Recessive Inheritance ◽  
Therapeutic Approaches

Elastic pseudoxanthoma is a rare disease with autosomal recessive inheritance, also known as Grönblad-Strandberg syndrome, characterized by pathological mineralization of the elastic fibers in the connective tissue, affecting principally the dermis of skin, media, and intima of blood vessels and Bruch’s membrane of the eye. The genetic defect of the disorder is located on chromosome 16p13.1 and disease is caused by the lack of functional ABCC6 protein, which in turn causes extracellular accumulation and deposition of calcium and other minerals in the elastic tissue. In this article we present two cases of this rare disease. We emphasize, in the diagnostic criteria, the importance of its early diagnosis and the current therapeutic approaches.

Hereditary Hydrometrocolpos with Polydactyly in Infancy

PEDIATRICS ◽  
1971 ◽  
Vol 47 (1) ◽  
pp. 138-141
Author(s):  
Claibourne I. Dungy ◽  
Robert G. Aptekar ◽  
Howard M. Cann
Keyword(s):  
Early Diagnosis ◽  
Autosomal Recessive ◽  
Autosomal Recessive Inheritance ◽  
Diagnosis And Treatment ◽  
Recessive Inheritance ◽  
Review Of The Literature ◽  
Vaginal Atresia

An infant with hydrometrocolpos, secondary to vaginal atresia, and bilateral polydactyly, the product of unaffected first cousin parents, is presented. Autosomal recessive inheritance for hydrometrocolpos secondary to vaginal atresia is suggested by this case and by a previous report of two sibships each with affected sisters and each issuing from consanguineous parents. A review of the literature reveals the association of hydrometrocolpos, secondary to vaginal atresia, with polydactyly in four additional cases. Early diagnosis and treatment of hydrometrocolpos is emphasized.

HEREDITARY PARATHYROID HYPERPLASIA: A SURGICAL EMERGENCY OF EARLY INFANCY

PEDIATRICS ◽  
1972 ◽  
Vol 49 (4) ◽  
pp. 514-523
Author(s):  
Richard B. Goldbloom ◽  
D. A. Gillis ◽  
M. Prasad
Keyword(s):  
Early Diagnosis ◽  
Autosomal Recessive ◽  
Autosomal Recessive Inheritance ◽  
Early Infancy ◽  
Parathyroid Hyperplasia ◽  
Recessive Inheritance ◽  
Subtotal Parathyroidectomy ◽  
Surgical Emergency

Two siblings with idiopathic familial parathyroid hyperplasia were identified in early infancy, bringing to 11 the number of known affected infants. Both survived as a result of early subtotal parathyroidectomy, though continuing hyperfunction of remaining tissue necessitated reoperation in both. Despite the presence of hypoparathyroidism, both infants are developing normally. Review of the 11 cases suggests strongly that the disorder is of autosomal recessive inheritance. Only two other infants are known to have survived, emphasizing that early diagnosis and surgery offer the only chance of survival.

Pelizaeus Merzbacher phenotype with epilepsy and autosomal recessive inheritance in two siblings

2006 ◽  
Vol 37 (03) ◽  
Author(s):  
U Gaiser ◽  
J Neuberger ◽  
E Regel ◽  
R Emmert ◽  
M Ries
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Recessive Inheritance ◽  
Recessive Inheritance

TYPICAL CASES OF ISOLATED GROWTH HORMONE DEFICIENCY WITH AUTOSOMAL RECESSIVE INHERITANCE

1970 ◽  
Vol 63 (4) ◽  
pp. 618-624 ◽  
Author(s):  
Y. Kumahara ◽  
Y. Okada ◽  
K. Miyai ◽  
H. Iwatsubo
Keyword(s):  
Growth Hormone ◽  
Growth Hormone Deficiency ◽  
Autosomal Recessive ◽  
Autosomal Recessive Inheritance ◽  
Adult Subject ◽  
Hormone Deficiency ◽  
Recessive Inheritance ◽  
Arginine Infusion ◽  
Isolated Growth Hormone Deficiency ◽  
Male Dwarf

ABSTRACT A 25-year-old male dwarf and his sister, a 31-year-old woman were investigated. Their respective heights were 114 and 97 cm with proportional statures. Their bone ages were that found in the adult subject. Thyroid functions and metyrapone test were normal and the total urinary gonadotrophin was determined in both cases. HGH secretion was not stimulated by insulin-induced hypoglycaemia, arginine infusion or exercise. Their parents and six other siblings were normal in height. The two patients were therefore assumed to be suffering from an isolated growth hormone deficiency with autosomal recessive inheritance.

scholarly journals Short stature, brachydactyly, and Peters' anomaly (Peters'-plus syndrome): confirmation of autosomal recessive inheritance.

1991 ◽  
Vol 28 (4) ◽  
pp. 277-279 ◽  
Author(s):  
J C de Almeida ◽  
D F Reis ◽  
J Llerena Junior ◽  
J Barbosa Neto ◽  
R L Pontes ◽  
...  
Keyword(s):  
Short Stature ◽  
Autosomal Recessive ◽  
Autosomal Recessive Inheritance ◽  
Recessive Inheritance ◽  
Peters Anomaly

Matthew-Wood syndrome: Report of two new cases supporting autosomal recessive inheritance and exclusion ofFGF10 andFGFR2

2007 ◽  
Vol 143A (3) ◽  
pp. 219-228 ◽  
Author(s):  
Jelena Martinovic-Bouriel ◽  
Céline Bernabé-Dupont ◽  
Christelle Golzio ◽  
Bettina Grattagliano-Bessières ◽  
Valérie Malan ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Recessive Inheritance ◽  
Recessive Inheritance ◽  
Syndrome Report

Genomic features of lung cancer patients harboring germline mutations associated with hereditary cancer syndromes.

2021 ◽  
Vol 39 (15_suppl) ◽  
pp. e20511-e20511
Author(s):  
Jian Sun ◽  
Weiran Wang ◽  
Danhua Wang ◽  
Hongling Yuan ◽  
Tonghui Ma
Keyword(s):  
Lung Cancer ◽  
Cancer Patients ◽  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Autosomal Recessive Inheritance ◽  
Germline Mutations ◽  
Autosomal Dominant Inheritance ◽  
Recessive Inheritance ◽  
Dominant Inheritance ◽  
Lung Cancer Patients

e20511 Background: Smoking and air pollution are the major causes of lung cancer; however, numerous studies have demonstrated that genetic factors also contribute to the development of lung cancer. Here, we reported an analysis of genomic features in 65 lung cancer patients with autosomal-dominant or autosomal-recessive inheritance of germline mutations. Methods: We retrospectively reviewed next-generation sequencing data of 26,904 lung cancer patients in a Chinese cohort. The germline mutation patterns, as well as the co-occurrence with somatic driver mutations were analyzed. Results: A total of 65 (0.24%) patients with heterozygous germline mutations associated with hereditary cancer syndromes were detected, including 27 (0.10%) patients with autosomal-dominant inheritance (BRCA1, BRCA2, RET and TP53) and 38 (0.14%) patients with autosomal-recessive inheritance (ATM, BLM, FANCA, FANCG, MUTYH, NBN, RECQL4 and WRN). Comparing to patients with autosomal-dominant inheritance (Age 56±17.8), patients with autosomal-recessive inheritance (Age 65±11.7, P = 0.009) were older, and there is no gender difference. Additionally, 66.7% (18/27) of patients with autosomal-dominant inheritance were identified co-mutated actionable variations, such as 12 patients harboring mutations in exon 18–21 of EGFR, 2 patients harboring ERBB2 exon 20 insertions, 3 patients harboring mutations in exon 2 of KRAS and 1 patient harboring EML4-ALK fusion. The coexistence of germline autosomal-dominant mutations and somatic driver mutations indicated that germline mutations have weak impact on lung cancer. Simultaneously, 52.6% (20/38) of patients with autosomal-recessive inheritance were identified co-mutated actionable variations, such as 15 EGFR+ patients, 2 ERBB2+ patients and 3 KRAS+ patients. And there was no significant difference in population frequency of co-mutated actionable variations between the two groups. Conclusions: In summary, studies on germline mutations of lung cancer patients may help to elucidate the etiology and mechanism of lung cancer, and may help for early detection and diagnosis, targeted therapy and improved prevention strategies.

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