Case Report: Crown Resorption in a Patient With Junctional Epidermolysis Bullosa and Amelogenesis Imperfecta With LAMB3 Gene Mutations

Background: Epidermolysis bullosa (EB) corresponds to a series of conditions characterized by extreme fragility of the skin and/or mucous membranes. Of the four main types of EB, junctional EB (JEB) is the most associated with alterations in the teeth. The purposes of this study were to determine the clinical, histopathological, and ultrastructural characteristics of teeth with amelogenesis imperfecta (AI) in a patient with JEB, and compare them with control teeth, and correlate the findings with the mutations present in the patient.Case Report: The study was conducted on a 10-year-old patient with JEB carrier of two recessive mutations in the LAMB3 gene and absence of the laminin-332 protein (LM-332), determined by immunofluorescence on a skin biopsy. The patient presents hypoplastic AI with very thin and yellow-brown colored enamel. Extraction of two permanent molars was performed due to pain and soft tissue covering the crown, resembling pulp polyp or hyperplastic gingiva. Light and scanning electron microscopy (SEM) revealed very thin enamel varying from complete absence to 60 μm, absence of normal prismatic structure, and presence of a cross-banding with a laminated appearance. The histopathological study revealed granulation tissue causing external crown resorption.Conclusion: Although coronary resorption has been reported in patients with syndromic and non-syndromic AI, this is the first clinicopathological report of coronary resorption in partially erupted teeth in patients with JEB with mutations in the LAMB3 gene and hypoplastic AI. In patients with this condition, the presence of partially erupted teeth with soft tissue covering part of the crown, without a periodontal pocket, and with a radiographic image of partial coronal radiolucency should lead to suspicion of external coronary resorption.

Download Full-text

LAMB3 gene mutations in a patient with herlitz junctional epidermolysis bullosa displaying immunoreactivity to laminin-5

Journal of Dermatological Science ◽

10.1016/s0923-1811(98)83242-8 ◽

1998 ◽

Vol 16 ◽

pp. S41

Author(s):

P. Posteraro ◽

M. El Hachem ◽

S. Cicuzza ◽

G. Meneguzzi ◽

G. Zambruno ◽

...

Keyword(s):

Epidermolysis Bullosa ◽

Gene Mutations ◽

Junctional Epidermolysis Bullosa ◽

Laminin 5

Download Full-text

Junctional Epidermolysis Bullosa of the Larynx

PEDIATRICS ◽

10.1542/peds.78.1.172 ◽

1986 ◽

Vol 78 (1) ◽

pp. 172-174

Author(s):

MARGARET A. KENNA ◽

SYLVAN E. STOOL ◽

SUSAN B. MALLORY

Keyword(s):

Case Report ◽

Epidermolysis Bullosa ◽

Minor Trauma ◽

Junctional Epidermolysis Bullosa ◽

First Case ◽

New Variant ◽

Genetically Determined ◽

Dermatologic Disease ◽

Hereditary Epidermolysis Bullosa ◽

Laryngeal Involvement

Epidermolysis bullosa is a rare genetically determined, dermatologic disease in which minor trauma causes blister formation.1 A new variant of hereditary epidermolysis bullosa, generalized atrophic benign epidermolysis bullosa, junctional form, has been recently reported.2 Airway involvement has not been a notable feature of this disease. We report the first case of an infant having benign junctional epidermolysis bullosa with laryngeal involvement. CASE REPORT An 11-month-old white boy with known junctional epidermolysis bullosa and mild stridor since birth was referred by his dermatologist for increasing stridor of 24 hours duration. He was initially thought to have croup; however, conservative treatment with mist and racemic epinephrine did not improve his symptoms.

Download Full-text

A CASE REPORT OF A YOUNG MAN WITH ABDOMINAL MASS: HUNT FOR DIAGNOSIS

10.36106/gjra/4209413 ◽

2021 ◽

pp. 55-56

Author(s):

K Pratyusha ◽

Satish Arakeri ◽

Surekha Arakeri

Keyword(s):

Case Report ◽

Soft Tissue ◽

Liver Abscess ◽

Ewing Sarcoma ◽

Abdominal Mass ◽

Histopathological Study ◽

Round Cell ◽

Small Round Cell ◽

Malignant Soft Tissue Tumor ◽

Extraskeletal Ewing Sarcoma

Introduction: Extraskeletal Ewing sarcoma/PNET is a small round cell sarcoma showing gene fusions of EWSR1-FLI1. A 28-year-old male patient presented with right ank pain and low gr Case Report: ade fever since 15 days. On examination: a mass was palpable in the right hypochondrium. Provisional diagnosis of Liver abscess has been made. USG abdomen shows features cystic lesion in the liver with internal septation ?Liver abscess /Hydatid cyst. Intraoperatively, tumor was seen attached to upper pole of kidney. Since tumor was large, it was ruptured intraoperatively and debulking surgery has been done. Under microscopy, tumor was arranged in sheets with intervening stroma showing desmoplastic reaction. Perivascular pseudorosettes are seen. The diagnosis of malignant small round cell tumor has been given. On immunohistochemistry, tumor cells are positive for Vimentin, CD99, NKX2.2 , FLI1, Neurolaments, Synaptophysin with focal immunoreactivity for EMA, Pancytokeratin. Final diagnosis was EXTRASKELETAL EWING SARCOMA/PNET. Discussion: Extra-skeletal Ewing sarcoma/PNET is malignant soft tissue tumor seen in chest wall, thigh, paravertebal region etc. Retroperitoneum is a least common site. Most common presentation is swelling in the soft tissue with compressive symptoms. Histologically, it is composed of undifferentiated small round cells. Conclusion: Clinical examination and radiological ndings leads to ambiguous diagnosis in Ewing sarcoma/PNET. Hence proper histopathological study is essential for nal diagnosis.

Download Full-text

Junctional Epidermolysis Bullosa: A Case Report

Bangladesh Journal of Child Health ◽

10.3329/bjch.v37i3.18622 ◽

2014 ◽

Vol 37 (3) ◽

pp. 175-178

Author(s):

Lutfan Nessa ◽

Uzere Azam ◽

Partho Sharothy Mazumder ◽

Shabnam Akhter

Keyword(s):

Case Report ◽

Child Health ◽

Epidermolysis Bullosa ◽

Junctional Epidermolysis Bullosa

DOI: http://dx.doi.org/10.3329/bjch.v37i3.18622 Bangladesh J Child Health 2013; Vol.37(3): 175-178

Download Full-text

Phenotype and Variant Spectrum in the LAMB3 Form of Amelogenesis Imperfecta

Journal of Dental Research ◽

10.1177/0022034519835205 ◽

2019 ◽

Vol 98 (6) ◽

pp. 698-704 ◽

Cited By ~ 4

Author(s):

C.E.L. Smith ◽

J.A. Poulter ◽

S.J. Brookes ◽

G. Murillo ◽

S. Silva ◽

...

Keyword(s):

Epidermolysis Bullosa ◽

Third Molar ◽

Dental Enamel ◽

Amelogenesis Imperfecta ◽

Splice Acceptor Site ◽

Acceptor Site ◽

Loss Of Function ◽

Inherited Disorders ◽

Junctional Epidermolysis Bullosa ◽

Molar Teeth

Amelogenesis imperfecta (AI) is a heterogeneous group of inherited disorders characterized by abnormal formation of dental enamel, either in isolation or as part of a syndrome. Heterozygous variants in laminin subunit beta 3 ( LAMB3) cause AI with dominant inheritance in the absence of other cosegregating clinical features. In contrast, biallelic loss-of-function variants in LAMB3 cause recessive junctional epidermolysis bullosa, characterized by life-threatening skin fragility. We identified 2 families segregating autosomal dominant AI with variable degrees of a distinctive hypoplastic phenotype due to pathogenic variants in LAMB3. Whole exome sequencing revealed a nonsense variant (c.3340G>T, p.E1114*) within the final exon in family 1, while Sanger sequencing in family 2 revealed a variant (c.3383-1G>A) in the canonical splice acceptor site of the final exon. Analysis of cDNA from family 2 revealed retention of the final intron leading to a premature termination codon. Two unerupted third molar teeth from individual IV:5 in family 2 were subject to computerized tomography and scanning electron microscopy. LAMB3 molar teeth have a multitude of cusps versus matched controls. LAMB3 enamel was well mineralized but pitted. The architecture of the initially secreted enamel was abnormal, with cervical enamel appearing much less severely affected than coronal enamel. This study further defines the variations in phenotype-genotype correlation for AI due to variants in LAMB3, underlines the clustering of nonsense and frameshift variants causing AI in the absence of junctional epidermolysis bullosa, and highlights the shared AI phenotype arising from variants in genes coding for hemidesmosome proteins.

Download Full-text