A CASE REPORT OF APLASIA CUTIS CONGENITA TYPE VI: BART'S SYNDROME

Aplasia cutis congenita type VI (Barts syndrome), is a rare genetic disorder characterized by congenital localized absence of skin, formation of blisters (epidermolysisbullosa), and nail abnormalities. In this report, we present a rare case of aplasia cutis congenita type VI (Barts syndrome) in a newborn malebaby with the absence of a skin layer over the anterior right leg, slightly below the patella (kneecap) and around the ankle joint.On the second day, the affected areas developed blisters characterizing epidermolysisbullosa.Laboratory investigationswere all normal. The patients wound was managed conservatively with dressing and topical antibiotic ointments.

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A rare case report of aplasia cutis congenita of the scalp with triplet skin defects in non-syndromic newborn

International Surgery Journal ◽

10.18203/2349-2902.isj20210468 ◽

2021 ◽

Vol 8 (3) ◽

pp. 997

Author(s):

Naim Sulaiman Abuzarifa ◽

Wan Azman Wan Sulaiman

Keyword(s):

Case Report ◽

Gestational Age ◽

Rare Case ◽

Surgical Intervention ◽

Skin Condition ◽

Skin Defect ◽

Aplasia Cutis Congenita ◽

Skin Defects ◽

Rare Case Report ◽

Aplasia Cutis

Aplasia cutis congenita is an uncommon localized or widespread congenital skin condition characterized by the absence of the skin, and occasionally underlying tissues occurs in about one every 10.000 birth mostly in the scalp as single or more than one lesion and sometimes occurs in extremities and trunk with an uncertain cause and can be associated with numerous syndromes or can be sporadic which is diagnosed clinically and usually conservatively managed but sometimes surgical intervention needed. In this literature, we present nonsyndromic newborn Malay girl normally delivered with 35 weeks gestational age with triplet skin raw areas at the vertex of the scalp with well-demarcated defect round in shape measured about 0.5 in radius covered with a noninflammatory, necrotic patch. To our knowledge, many works of literatures presented Aplasia cutis congenita at the scalp with solitary single or occasionally more than one skin defect. In contrast, in our case, we present an infrequent rare case of triplet skin defect of aplasia cutis congenita for nonsyndromic newborns.

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Aplasia Cutis Congenita in the Napkin Area: A Rare Case Report

Clinical Dermatology Open Access Journal ◽

10.23880/cdoaj-16000235 ◽

2021 ◽

Vol 6 (1) ◽

Author(s):

Gramp P

Keyword(s):

Case Report ◽

Rare Case ◽

Aplasia Cutis Congenita ◽

Rare Case Report ◽

Aplasia Cutis

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Laron syndrome – A case Report

JMS SKIMS ◽

10.33883/jms.v20i2.204 ◽

2017 ◽

Vol 20 (2) ◽

pp. 104-106

Author(s):

Javaid Ahmad Bhat ◽

Moomin Hussain Bhat ◽

Hilal Bhat ◽

Mona Sood ◽

Shariq Rashid Masoodi

Keyword(s):

Growth Hormone ◽

Case Report ◽

Hormone Receptor ◽

Growth Hormone Receptor ◽

Genetic Disorder ◽

Female Child ◽

Receptor Signaling ◽

Laron Syndrome ◽

Rare Genetic Disorder ◽

Igf I

Background : Laron & colleagues (1966) reported a rare genetic disorder in Israliei Jewish sublings which was characterized by insensitivity to growth hormone due to abnormality in growth hormone receptor or post receptor signaling pathway.Case Report: We hereby report a case of a 5 year old female child who presented to us with features similar to Laron syndrome. The diagnosis was made & confirmed by various Lab. investigations like low IGF-I levels and managed accordingly. JMS 2017; 20 (2):104-106

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Anesthesia in Carvajal syndrome; the first case report

Anaesthesia, Pain & Intensive Care ◽

10.35975/apic.v24i1.1233 ◽

2020 ◽

Vol 24 (1) ◽

pp. 105-107

Author(s):

Sedighe Shahhosseini ◽

Reza Aminnejad ◽

Amir Shafa ◽

Mehrdad Memarzade

Keyword(s):

Intensive Care ◽

Case Report ◽

Surgical Resection ◽

Genetic Disorder ◽

Anesthetic Technique ◽

Close Monitoring ◽

Anesthesia Management ◽

Rare Genetic Disorder ◽

First Case ◽

Anesthetic Considerations

Carvajal syndrome is a rare genetic disorder. Patients reporting for surgery pose some difficulties in anesthesia management. In this case report we present the case of a 12-year-old boy, who was a known case of Carvajal syndrome, referred for surgical resection of perianal condyloma. Close monitoring of hemodynamic status is the mainstay of anesthetic considerations in such patients. As in any other challenging scenario, it should be kept in mind that ‘there is no safest anesthetic agent, nor the safest anesthetic technique; there is only the safest anesthesiologist’. Citation: Shahhosseini S, Aminnejad R, Shafa A, Memarzadeh M. Anesthesia in Carvajal syndrome; the first case report. Anaesth pain intensive care 2020;24(1):___ DOI: https://doi.org/10.35975/apic.v24i1.

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Bilateral Abdominal Aplasia Cutis Congenita Associated with Atrial Septal Defect: A Case Report

Pediatric Dermatology ◽

10.1111/j.1525-1470.1997.tb00217.x ◽

1997 ◽

Vol 14 (2) ◽

pp. 117-119 ◽

Cited By ~ 3

Author(s):

Gülsevin Tekinalp ◽

Murat Yurdakök ◽

Ates Kara ◽

Aytaç Gököz ◽

Sedef Şahin ◽

...

Keyword(s):

Case Report ◽

Atrial Septal Defect ◽

Septal Defect ◽

Aplasia Cutis Congenita ◽

Aplasia Cutis

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Pitt–Hopkins syndrome with electrical stat us epileptic us in slo w-wave sleep: a case report

Russian Journal of Child Neurology ◽

10.17650/2073-8803-2019-14-2-42-48 ◽

2019 ◽

Vol 14 (2) ◽

pp. 42-48

Author(s):

N. G. Lyukshina

Keyword(s):

Case Report ◽

Intellectual Disability ◽

Status Epilepticus ◽

Neuronal Differentiation ◽

Clinical Case ◽

Genetic Disorder ◽

Facial Dysmorphism ◽

Autistic Behavior ◽

Rare Genetic Disorder ◽

Molecular Variant

Pitt–Hoppkins syndrome is rare genetic disorder caused by a molecular variant of TCF4 which is involved in embryologic neuronal differentiation. The syndrome is characterized by specific facial dysmorphism, phychomotor delay, autistic behavior and intellectual disability. Other associated features include ealy-onset myopia, seizures, constipation and hyperventilation-apneic spells. We introduced a clinical case of the patient with molecularly confirmed TCF4 variant and previously undescribed combination with syndrome of the electrical status epilepticus during sleep.

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