Hereditary phlebectasis of the lips. An autosomal dominant disorder

AbstractBackgroundDenosumab is an inhibitor of receptor activator of nuclear factor kappa-B ligand, which strongly suppresses osteoclasts. Cherubism is a rare autosomal dominant disorder characterized by symmetrical swelling of the jaws, in which the bone is replaced by a fibrous granuloma containing osteoclast-like giant cells.Case presentationWe report the efficacy and safety of denosumab treatment in a prepubertal boy with progressive cherubism. The treatment consisting of eight subcutaneous denosumab injections (120 mg/dose) in 6 months not only suppressed the expansion of the osteolytic lesions but also dramatically ossified them. However, a transiently decreased growth rate and rebounded asymptomatic hypercalcemia were associated with the treatment.ConclusionsThe present case demonstrated the therapeutic potential of denosumab for treatment of cherubism, although adverse effects, especially those on childhood growth, remain obscure. Further studies are needed to establish a safe and effective protocol for denosumab treatment of children.

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PLEXIFORM NEUROFIBROMA OF THE BRACHIAL PLEXUS – A RARE CASE REPORT

10.36106/ijsr/6303213 ◽

2021 ◽

pp. 13-15

Author(s):

Surya Rao Rao Venkata Mahipathy ◽

Alagar Raja Durairaj ◽

Narayanamurthy Sundaramurthy ◽

Anand Prasath Jayachandiran ◽

Suresh Rajendran

Keyword(s):

Brachial Plexus ◽

Rare Case ◽

Autosomal Dominant ◽

Plexiform Neurofibroma ◽

Autosomal Dominant Disorder ◽

Surgical Debulking ◽

Rare Case Report ◽

Benign Tumours ◽

Common Benign Tumour

Neurobroma is a common benign tumour occurring as part of an autosomal dominant disorder, neurobromatosis type 1, leading to the formation of benign tumours or neurobromas of the peripheral nervous system. Large neurobromas of the brachial plexus are rare and present a difcult challenge for surgeon due to the anatomical complexity of the brachial plexus. Dermal neurobromas usually present with swelling and occasional pain, but neurobromas associated with the brachial plexus present with pain and neurological symptoms. These plexiform neurobromas of the brachial plexus are known to undergo malignant transformation. Here, we present a case of a large plexiform neurobroma affecting the left brachial plexus and extending till the elbow, conrmed with MRI and surgical debulking was done.

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Progressive Diaphyseal Dysplasia: Genetics and Clinical and Radiologic Manifestations

PEDIATRICS ◽

10.1542/peds.74.3.399 ◽

1984 ◽

Vol 74 (3) ◽

pp. 399-405

Author(s):

Yehezkel Naveh ◽

Joseph K. Kaftori ◽

Uri Alon ◽

Jacob Ben-David ◽

Moshe Berant

Keyword(s):

Autosomal Dominant ◽

Autosomal Dominant Disorder ◽

Generation Family ◽

Progressive Diaphyseal Dysplasia ◽

Radiographic Screening ◽

Osteosclerotic Dysplasia ◽

Structural Deformity ◽

Diaphyseal Dysplasia ◽

Engelmann Disease

Progressive diaphyseal dysplasia was found in a three-generation family including 13 affected individuals, the largest family reported to date. Our study confirms that progressive diaphyseal dysplasia, also known as Engelmann's or Camurati-Engelmann disease, is an autosomal dominant disorder with variable osseous and muscular manifestations. Disease distribution among patients, within a given patient, or even in individual bones is unpredictable. The femur is the most commonly and severely affected bone and hence most useful for radiographic screening of possible patients. Radiographs provide a meaningful assessment of disease activity and extent. The severity of symptoms is generally proportionate to severity of involvement shown by roentgenography. Exophthalmos due to osteosclerotic dysplasia of the skull occurred in more than half of the patients with progressive diaphyseal dysplasia. Twelve-year follow-up of this family, with affected individuals ranging in age from 6 months to 12 years, indicates that progressive diaphyseal dysplasia may progress or become quiescent and be remarkably inactive despite advanced osteosclerosis and structural deformity.

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Neurofibromatosis

Journal of Nepal Paediatric Society ◽

10.3126/jnps.v34i1.8535 ◽

2014 ◽

Vol 34 (1) ◽

pp. 81-82

Author(s):

D Sharma ◽

S Murki ◽

V Madhavi

Keyword(s):

Birth Weight ◽

Low Birth Weight ◽

Autosomal Dominant ◽

Nerve Tissue ◽

Autosomal Dominant Disorder ◽

Café Au Lait Spots

Neurofibromatosis is a genetically-inherited disorder in which the nerve tissue grows tumors (neurofibromas) that may be benign and may cause serious damage by compressing nerves and other tissues. Neurofibromatosis is an autosomal dominant disorder, which means only one copy of the affected gene is needed for the disorder to develop(1). We report a baby who was admitted with us in view of prematurity (34 weeks gestation ) and low birth weight (1.32 Kg). Baby’s mother was antenatally diagnosed with NF 1(figure no 1,2). Baby had multiple café au lait spots all over the bodies (figure no 3,4). Baby was discharged from nursery in well condition.DOI: http://dx.doi.org/10.3126/jnps.v34i1.8535 J Nepal Paediatr Soc 2014;34(1):81-82

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Familial Hypocalciuric Hypercalcaemia (FHH): A Case Report

International Journal of Innovative Research in Medical Science ◽

10.23958/ijirms/vol03-i09/433 ◽

2018 ◽

Vol 3 (09) ◽

Author(s):

Tivya Kulasegaran ◽

Pranav Kumar

Keyword(s):

Differential Diagnosis ◽

Case Report ◽

Parathyroid Hormone ◽

Autosomal Dominant ◽

Genetic Test ◽

Calcium Sensor ◽

Clearance Ratio ◽

Autosomal Dominant Disorder ◽

Casr Gene ◽

Inactivating Mutation

Familial hypocalciuric hypercalcaemia (FHH) is a rare genetic autosomal dominant disorder, with 3 variants described. An inactivating mutation in the calcium sensor receptor (CASR) gene causes the subtype 1, which represents 65% of the cases. Inactivation of Ca-sensing receptors (CaSR) can also lead to hypercalcemia associated with increased parathyroid hormone (PTH) secretion.[1] It is characterised by causes mild asymptomatic hypercalcemia[2] and hypocalciuria with normal or elevated PTH. FHH is generally asymptomatic and treatment is not needed. Differential diagnosis with primary hyperparathyroidism (PHPT) is crucial and based on calcium-creatinine clearance ratio (CCCR), which, when under 0.02 points to the diagnosis of FHH.[3] Genetic test is necessary for confirmation.[4]

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Reversible splenial lesion syndrome (RESLES) due to acute intermittent porphyria with a novel mutation in the hydroxymethylbilane synthase gene

10.21203/rs.2.19929/v2 ◽

2020 ◽

Author(s):

xiaoqing li ◽

fei han ◽

qianlong chen ◽

tienan zhu ◽

yongqiang zhao ◽

...

Keyword(s):

Biosynthetic Pathway ◽

Autosomal Dominant ◽

Stop Codon ◽

Novel Mutation ◽

Acute Intermittent Porphyria ◽

Porphobilinogen Deaminase ◽

Autosomal Dominant Disorder ◽

Splenial Lesion ◽

Partial Deficiency ◽

Reversible Splenial Lesion Syndrome

Abstract Background: Reversible splenial lesion syndrome (RESLES) is a clinico-radiological syndrome characterized by the presence of reversible lesions specifically involving the splenium of the corpus callosum (SCC). The cause of RESLES is unknown. However, infectious-related mild encephalitis/encephalopathy (MERS) with a reversible splenial lesion remains the most common cause of reversible splenial lesions. Acute intermittent porphyria (AIP) is an autosomal dominant disorder caused by a partial deficiency of porphobilinogen deaminase (PBGD), the third enzyme in the heme biosynthetic pathway. It can affect the autonomic, peripheral, and central nervous system. Result: In this study, we report a 20-year-old woman with AIP who presented with MRI manifestations suggestive of RESLES, she had a novel HMBS nonsense mutation, a G to A mutation in base 594, which changed tryptophan to a stop codon (W198*). Conclusion: To the best of our knowledge, this is only one published case of RELES associated with AIP.

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Prenatal Diagnosis of Holt–Oram Syndrome With a Novel Mutation of TBX5 Gene: A Case Report

Frontiers in Pediatrics ◽

10.3389/fped.2021.737633 ◽

2021 ◽

Vol 9 ◽

Author(s):

Guan-nan He ◽

Xue-yan Wang ◽

Min Kang ◽

Xi-min Chen ◽

Na Xi ◽

...

Keyword(s):

Septal Defect ◽

Autosomal Dominant ◽

Novel Mutation ◽

Splice Donor ◽

Autosomal Dominant Disorder ◽

Cubitus Valgus ◽

Case Presentation ◽

Whole Exome ◽

The Right ◽

Tbx5 Gene

Background: Holt–Oram syndrome (HOS) is an autosomal dominant disorder caused by mutations of TBX5 gene.Case presentation: We report a fetus with HOS diagnosed sonographically at 23 weeks of gestation. The fetal parents are non-consanguineous. The fetus exhibited short radius and ulna, inability to supinate the hands, absence of the right thumb, and heart ventricular septal defect (VSD), while the fetal father exhibited VSD and short radius and ulna only. Fetal brother had cubitus valgus and thumb adduction, except for VSD, short radius and ulna. The pregnancy was terminated. Whole-exome sequencing (WES) revealed a novel mutation in the TBX5 (c.510+1G>A) in the fetus inherited from the father. The variant (c.510+1G>A) occurs at splice donor and may alter TBX5 gene function by impact on splicing. It was not previously reported in China.Conclusion: Our case reported a novel mutation in TBX5, which expanded the known genetic variants associated with HOS.

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Association of hereditary thrombocythemia and distal limb defects with a thrombopoietin gene mutation

Blood ◽

10.1182/blood-2009-04-217851 ◽

2009 ◽

Vol 114 (8) ◽

pp. 1655-1657 ◽

Cited By ~ 14

Author(s):

Claudio Graziano ◽

Simona Carone ◽

Emanuele Panza ◽

Flora Marino ◽

Pamela Magini ◽

...

Keyword(s):

Human Development ◽

Gene Mutation ◽

Autosomal Dominant ◽

Specific Gene ◽

Autosomal Dominant Disorder ◽

Distal Limb ◽

Limb Defects ◽

First Report

Abstract Hereditary thrombocythemia is a rare autosomal dominant disorder caused by mutations in either the thrombopoietin gene (TPO) or its receptor c-MPL. TPO mutations described so far lead to thrombopoietin overproduction through increased translation of m-RNA. Unilateral transverse reduction limb defects are usually sporadic and generally thought to be caused by vascular disruptions. Reports of inherited unilateral limb defects are extremely rare. In the present study, we describe a family with segregation of G185T TPO mutation in the 5′ UTR region in 4 subjects with thrombocythemia. Three of these patients also present congenital transverse limb defects. Association of these events gives a strong hint of the in vivo involvement of thrombopoietin in vasculogenesis, confirming the role of TPO in human development of the hemangioblast, the embryonic progenitor of the hematopoietic and endothelial lineages. This is the first report showing that vascular disruptions could be secondary to specific gene derangements.

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The Bannayan Syndrome: An Autosomal Dominant Disorder Consisting of Macrocephaly, Lipomas, Hemangiomas, and Risk for Intracranial Tumors

PEDIATRICS ◽

10.1542/peds.69.5.632 ◽

1982 ◽

Vol 69 (5) ◽

pp. 632-634

Author(s):

Marilyn C. Higginbottom ◽

Paul Schultz

Keyword(s):

At Risk ◽

Linear Growth ◽

Autosomal Dominant ◽

Intracranial Tumors ◽

Autosomal Dominant Disorder ◽

Genetic Etiology ◽

Intracranial Neoplasms

The Bannayan syndrome is a disorder consisting of macrocephaly, alterations of linear growth, and benign mesodermal hamartomas—primarily lipomas and hemangiomas. The purpose of this report is to present a family with the Bannayan syndrome, confirming the genetic etiology of the disorder and demonstrating that affected individuals are at risk for developing intracranial neoplasms. This report brings to seven the number of cases reported in the literature.

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