A 5-year journey with cutis laxa in an Indian child: The de barsy syndrome revisited

Dutta, Abhijit; Ghosh, Sudip Kumar; Ghosh, Alakendu; Roy, Sutirtha

doi:10.4103/0019-5154.174031

Cited by 7 publications

(7 citation statements)

References 9 publications

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“…Connective tissue disorders may increase the probability of an inguinal hernia by decreasing the durability of the inguinal canal. 5 The case presented here had a bilateral inguinal hernia with the defect at the right side is narrower than the left.…”

Section: Discussionmentioning

confidence: 99%

“…Autosomal Recessive Cutis Laxa type 2B (ARCL2B) is characterized by a mutation at pyrroline 5 carboxylate-reductase-1 gene (PYCR1, 1790 35.0001). ALDH18A1 gene is located on the long arm of chromosome 10 (10q24.1) and is related with the subtype of cutis laxa called De Barsy 5 . The skin symptoms of the ARCL2B subtype are more pronounced in the arms and legs.…”

Section: Discussionmentioning

confidence: 99%

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Surgical Management of Inguinal Hernia in a Newborn with ARCL2B

Aydın¹,

Ayan²

2018

Turkiye Klinikleri J Case Rep

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utis laxa is a rare disease affecting approximately 400 families in the world with an incidence of 1 in 1 million and is equally distributed in both sexes.1 It may be congenital or acquired. It affects connective tissue that supports the body's framework which provides structure and strength to the muscles, joints, organs, and skin. The underlying pathology is related with elastin fibers. It results in skin manifestations such as the aged face, loose redundant skin, and reduced elasticity; and extracutaneous manifestations such as diverticula at the gastrointestinal system or urinary system, gastroesophageal reflux, diaphragmatic atonia or a hernia, umbilical or an inguinal hernia and hypoplasia of corpus callosum.2-4 In the literature, there are many reports about cutis laxa and its comorbidities but none is related with per operative management of the patient. To our knowledge, this will be the first case that discusses the surgical management of an autosomal recessive cutis laxa (ARCL2B) patient in English literature. CASE REPORTA 20-day-old male infant admitted to the outpatient clinic with a left inguinal hernia. He was born 1960 g at 40 th gestational week with spontaneous vaginal delivery. He was 2300 g prior to operation. He had healthy parents who had a consanguineous marriage. He had two sisters who were 5 and 13 years old. The older sister was suspected as Ehler Danlos Syndrome. She was previously operated 3 times due to a recurrent bilateral inguinal A AB BS S T TR RA AC CT T Cutis laxa, being a rare disease has many accompanying disorders depending on the subtypes. It affects connective tissue that supports the body's framework in which the underlying pathology is related with elastin fibers. Herein, we presented successful management of a 20-dayold male admitted due to a unilateral inguinal hernia, atypical physical findings at physical examination those suggesting connective tissue disorder and with a sister who had a suspected diagnosis of Ehler Danlos Syndrome. To our knowledge, this will be the first case that discusses the uneventful operational management of an autosomal recessive cutis laxa type 2B patient in the English literature.K Ke ey yw wo or rd ds s: : Cutis laxa, recessive; cutis laxa; hernia, inguinal

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Surgical Management of Inguinal Hernia in a Newborn with ARCL2B

Aydın¹,

Ayan²

2018

Turkiye Klinikleri J Case Rep

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“…Alterations have been observed in both the number and size of the elastic fibers in the dermis and connective tissue [4]. However elastin appears to be the only component affected in Barsy's syndrome, this has been demonstrated in tests for determination of elastogenesis and degradation of the same by immunocytochemistry found low levels of m-RNA suggesting that some elastin gene is Involved [5].…”

Section: Classification [3]mentioning

confidence: 99%

“…The progeroid aspect predominates due to hypoplasia of the dermis in 100%; there is no predisposition for race, but if by gender (mainly men), there is also a broad forehead, dysplasia of auricular pavilions, impaired hair implantation, small mouth, teething alterations. 96% of patients will have postnatal growth retardation, 34% of patients will present umbilical hernia, psychomotor developmental delay in 76% of patients that can become severe in 48% of patients; Congenital cataract in 48% of the cases as well as myopia, divergent strabismus and blue sclera in various proportions [2,4,5].…”

Section: Classification [3]mentioning

confidence: 99%

De Barsy Syndrome: Orthopedic Case report and Literature Review

Guerra-Jasso¹

2017

MOJOR

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MOJ Orthop Rheumatol 2017, 7(5): 00284OGJA, male patient of 5 years and 6 months sent for firsttime orthopedic evaluation from a telethon child rehabilitation center in the city of Irapuato, Mexico due to the antecedent of psychomotor retardation, asymmetry of the pelvic extremities and inability to stand and walk. It does not have a hereditary family history of importance, mother at the time of pregnancy 30 years of age, second pregnancy, no drug addiction during pregnancy, history of intake of folic acid, iron and vitamins, pregnancy at term 40 weeks gestation, Natural birth, weight 3000 gr, size 51 cm, do not report hypoxia at birth (does not remember APGAR scale), both graduates of the hospital at 24 hours. During development and birth it negates hyperbilirubinemia; Cephalic support at 1 year 5 months, sedestation 1 year and 8 months, currently does not achieve standing, ambulation not achieved, sporadic babbling, history of previous hospitalizations for bilateral congenital cataract surgery operated at 4 months of age, history of pneumonia Repetition, has been diagnosed with Barsy syndrome since the beginning of 2015. Physical ExaminationAthetoid movements, Macrocephaly, cephalic support, adequate hair implantation, asymmetric eyes (hypertelorism), eruptive asymmetry of the upper and lower canines, cylindrical mobile neck, short, chest thorax, with limitation to the amplexation of the Respiratory movements, unstructured kyphosis, normal cervical lordosis, no spinal dysrhaphy, soft abdomen, hepatic dullness 5 cm below the costal border, 2 cm umbilical hernia not protruded. Without ambulation, Thoracic integral extremities, normal glenohumeral joint, elbow with hyperextension, hand with integral fingers, thumb in proper position, can perform fine and thick clamp. Asymmetric pelvic extremities with bilateral proximal femoral angular deformity, barlow and ortolani negative bilateral positive piston, bilateral positive yawning sign, positive drainage test for anterior and posterior of both knees, and ankle without alterations, preserved distal mobility. Brighton criteria of 8 points (touching the ground with the palms was not possible) . In all radiographic projections, metaphyseal rarefaction, proximal femur, distal, proximal tibia, as well as proximal and distal humerus, radius and cubit are observed. Radiographic FindingsPulmonary perfusion scan: low uptake of right lower lobe and bilateral apices.

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“…De Barsy syndrome is a rare genetic syndrome characterized by cutis laxa III (ARCL3 OMIM# 219150, 614438), progeroid appearance, ophthalmic opacification, skeletal malformations, growth delays, and intellectual disability . Given the diverse array of ophthalmic and skeletal malformations, de Barsy patients require frequent surgical interventions .…”

Section: Introductionmentioning

confidence: 99%

Clinical implications of de Barsy syndrome

Warner

Olsen

Smith

2017

Pediatric Anesthesia

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Summary Background De Barsy syndrome is a rare, autosomal recessive syndrome characterized by cutis laxa, progeroid appearance, ophthalmic opacification, skeletal malformations, growth delays, and intellectual disability. Aims The aim of this case series is to identify the anesthetic considerations in the clinical management of patients with de Barsy syndrome. Methods A retrospective case review from 1968 to 2016 was performed at a single tertiary medical center to identify patients with de Barsy syndrome who underwent anesthesia for diagnostic and surgical procedures. We collected and analyzed the perioperative records and following data: age, sex, American Society of Anesthesiologists physical status, relevant comorbidities, surgical procedures, anesthesia management, and observed complications. Results Three patients underwent 64 unique anesthetics for a diverse collection of diagnostic and surgical procedures. An array of anesthetics and techniques were successfully used. Observations of the perioperative period found 7 episodes of intraoperative hyperthermia (>38.3°), a single difficult airway requiring fiberoptic bronchoscopic‐guided intubation, and repeatedly difficult intravenous access. Conclusion This expanded case series suggests that providers caring for patients with de Barsy syndrome should be aware of potential challenges with airway management, vascular access, and temperature monitoring.

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A 5-year journey with cutis laxa in an Indian child: The de barsy syndrome revisited

Cited by 7 publications

References 9 publications

Surgical Management of Inguinal Hernia in a Newborn with ARCL2B

Surgical Management of Inguinal Hernia in a Newborn with ARCL2B

De Barsy Syndrome: Orthopedic Case report and Literature Review

Clinical implications of de Barsy syndrome

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