scholarly journals PROGRESSIVE PIGMENTATION OF WHOLE BODY MIMICKING HEREDITARY RETICULATE PIGMENTATION IN A YOUNG GIRL: A RARE PRESENTATION OF AMYLOID CUTIS DYSCHROMICA

2020 ◽  
pp. 1-2
Author(s):  
Amarbir Singh Boparai ◽  
BK Brar ◽  
Narvinderjeet Kaur
Keyword(s):  
Autosomal Recessive ◽  
Case Reports ◽  
Autosomal Recessive Inheritance ◽  
Chief Complaint ◽  
Whole Body ◽  
Recessive Inheritance ◽  
Rare Presentation ◽  
Systemic Involvement ◽  
The Family ◽  
Progressive Disorder

Primary cutaneous amyloidosis is a chronic, progressive disorder of skin, because of the amyloid deposition in the skin with no systemic involvement. Amyloid cutis dyschromica (ACD) is considered a rare variant of primary cutaneous amyloidosis with around 50 cases reported so far. Most cases are reported from Asia, majority having the family history. Autosomal recessive inheritance in GPNMB encoding glycoprotein non metastatic gene B has been reported in many cases with few case reports of semidominat inheritance. It is usually asymptomatic condition as opposed to other types of primary cutaneous amyloidosis like macular or lichenoid variant which are associated with moderate to severe pruritus and photosensitvity. Chief complaint in majority of cases is cosmetic concern only. In view of the very few cases reported from India, we hereby report the case of a 28 years old female having similar dyspigmentation in one sibling.

scholarly journals The Autosomal Recessive Inheritance of Hereditary Gingival Fibromatosis

2013 ◽  
Vol 2013 ◽  
pp. 1-4 ◽  
Author(s):  
Poulami Majumder ◽  
Vineet Nair ◽  
Malancha Mukherjee ◽  
Sujoy Ghosh ◽  
Subrata Kumar Dey
Keyword(s):  
Surgical Treatment ◽  
Medical History ◽  
Autosomal Recessive ◽  
Rare Condition ◽  
Autosomal Recessive Inheritance ◽  
Chief Complaint ◽  
Gingival Tissue ◽  
Recessive Inheritance ◽  
Inheritance Pattern ◽  
Gingival Fibromatosis

Hereditary gingival fibromatosis (HGF) is a rare condition which is marked by enlargement of gingival tissue that covers teeth to various extents leading to aesthetic disfigurement. This study presents a case of a 28-year-old female patient and 18-year-old male who belong to the same family suffering from HGF with chief complaint of overgrowing swelling gingiva. The presence of enlarged gingiva with the same eruption was found in their other family members with no concomitant drug or medical history, and the occurrence of HGF has been found in one generation of this family which may indicate the autosomal recessive inheritance pattern of HGF. Hereditary gingival fibromatosis is an idiopathic condition as its etiology is unknown and it was found to recur in some cases even after surgical treatment. Both patients underwent thorough oral prophylaxis and later surgical therapy to correct the deformity.

scholarly journals The PTRHD1 Mutation in Intellectual Disability

2021 ◽  
Vol 24 (10) ◽  
pp. 747-751
Author(s):  
Sara Cheraghi ◽  
Sahar Moghbelinejad ◽  
Hossein Najmabadi ◽  
Kimia Kahrizi ◽  
Reza Najafipour
Keyword(s):  
Intellectual Disability ◽  
Sanger Sequencing ◽  
Autosomal Recessive ◽  
Autosomal Recessive Inheritance ◽  
Recessive Inheritance ◽  
Consanguineous Family ◽  
Causative Variant ◽  
Whole Exome ◽  
The Family ◽  
High Throughput Dna Sequencing

Background: Intellectual disability (ID) is a heterogonous disorder with complex etiology. The frequency of autosomal recessive inheritance defects was elevated in a consanguineous family. Methods: In this study, high-throughput DNA sequencing was performed in an Iranian consanguineous family with two affected individuals to find potential causative variants. Whole-exome sequencing was carried out on the proband and Sanger sequencing was implemented for validation of the likely causative variant in the family members. Results: A novel homozygous missense mutation (p.Arg122Trp) was detected in the PTRHD1 gene. Conclusion: PTRHD1 has been recently introduced as a candidate ID and Parkinsonism causing gene. Our findings are in agreement with the clinical spectrum of PTRHD1 mutations; however, our affected individuals suffer from ID manifestations.

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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