Johanson-Blizzard Syndrome: Dental Findings and Management

Santhosh, B P; Jethmalani, Preeti

doi:10.5005/jp-journals-10024-1359

Cited by 4 publications

(3 citation statements)

References 4 publications

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“…However, the most prominent feature is exocrine pancreatic insufficiency [6]. Upon literature review, pancreatic insufficiency presents in nearly all JBS cases (Figure 7) [4,[10][11][12][13][14][15][16][17][18][19][20][21][22][23][24]. Nonetheless, one patient without pancreatic insufficiency was reported by Corona-Rivera et al [16].…”

Section: Discussionmentioning

confidence: 99%

“…To the best of our knowledge, plastic surgery and dacryocystorhinostomy have not been reported in any previous JBS patient. Nonetheless, Santhosh et al mentioned the use of a removable partial denture in the process of treating JBS patients, which had a favorable effect on the patient [ 19 ].…”

Section: Discussionmentioning

confidence: 99%

“…FIGURE 7: Clinical characteristics of patients with Johanson-Blizzard syndrome as reported in the literature.Summary of 21 previously reported cases along with our patient[4,[10][11][12][13][14][15][16][17][18][19][20][21][22][23][24].…”

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confidence: 98%

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Johanson-Blizzard Syndrome: A Case Report From Bahrain With a Literature Review

Isa,

Khudhair,

Abdulla

et al. 2024

Cureus

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Johanson-Blizzard syndrome (JBS) is a rare hereditary autosomal recessive disorder caused by a mutation in the ubiquitin protein ligase E3 component n-recognin 1 (UBR1) gene. This syndrome is characterized by the following typical clinical features: hypoplasia or aplasia of the alae nasi, congenital scalp defects, sensorineural hearing loss, hypothyroidism, growth retardation, psychomotor retardation, imperforate anus, genitourinary anomalies, and atypical hair patterns. Here, we describe a case of a 12-year-old girl with JBS of consanguineous parents. During the last trimester of pregnancy, a congenital abnormality affecting the nose was detected. Immediately after birth, the clinical examination revealed dysmorphic features in the form of hypoplastic alae nasi, microcephaly, mild hypotelorism, and cutis aplasia on the scalp. The genetic testing of the patient showed a novel sequence change mutation of the UBR1 gene (1bp duplication causing a frameshift), while both parents were carriers for this mutation. Moreover, a diagnosis of pancreatic insufficiency and subclinical hypothyroidism was made based on clinical presentation and laboratory results. The patient was started on pancreatic enzyme replacement therapy and fat-soluble vitamins, minerals, and antioxidant syrup. Further assessment revealed hypotonia, growth impairment, delay in reaching developmental milestones, and bilateral profound sensorineural hearing loss, which was managed with bilateral cochlear implantation. In addition, the patient underwent multiple craniofacial reconstructive surgeries. This case report highlights the importance of early diagnosis and multidisciplinary care of patients with JBS.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Johanson-Blizzard Syndrome: A Case Report From Bahrain With a Literature Review

Isa,

Khudhair,

Abdulla

et al. 2024

Cureus

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Developmental Defects of the Teeth and Their Hard Tissues

Kotsanos

Papagerakis

Sarnat

et al. 2022

Pediatric Dentistry

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Genodermatoses with teeth abnormalities

et al. 2020

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Many genodermatoses exhibit abnormal teeth findings. Studies examining these entities are scarce and narrow in their scope. This paper reviews the evolution, development, and structure of the tooth and provides a summary of genodermatoses with aberrant dental findings. The latter are classified according to the abnormal dental findings: periodontal disease, anodontia/oligodontia/hypodontia, polydontia, enamel hypoplasia, natal teeth, dental pits, and others. Finally, we provide an algorithm that dermatologists and dentists can follow to better recognize genodermatoses with dental involvement.

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Johanson-Blizzard Syndrome: Dental Findings and Management

Abstract: Early identification and treatment of this disease is of great importance to rehabilitate the patient on functional, esthetic and psychological front.

Cited by 4 publications

References 4 publications

Johanson-Blizzard Syndrome: A Case Report From Bahrain With a Literature Review

Johanson-Blizzard Syndrome: A Case Report From Bahrain With a Literature Review

Developmental Defects of the Teeth and Their Hard Tissues

Genodermatoses with teeth abnormalities

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