A novel mutation in LAMA3A gene in a child with laryngo-onycho-cutaneous syndrome from the Indian subcontinent.

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Date: Sept-Oct 2020
Publisher: Medknow Publications and Media Pvt. Ltd.
Document Type: Article
Length: 1,127 words
Lexile Measure: 1530L

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Byline: PSS. Ranugha, Veeranna. Shastry


Laryngo-onycho-cutaneous or Shabbir syndrome (OMIM 245660) is a rare autosomal recessive epithelial disorder confined to the Punjabi Muslim population.[1] Herein, we present a child with laryngo-onycho-cutaneous syndrome demonstrating a new mutation in LAMA3A gene.

A 2-year-old Bangladeshi girl, born out of non-consanguineous parentage, presented with a history of hoarse cry since birth and spontaneous blistering, automatic reddish growths from eyelids, wounds on the body and discoloration of nails since 6 months of age. On examination, we noted superficial erosions and ulcers with exuberant granulation tissue (ranging in size from 7× 4 to 15× 4 cm) on the right cheek, upper chest and left shoulder [Figure 1]a. Multiple hyperpigmented to violaceous papules and plaques with central erosions and crusting were noted on the trunk and limbs [Figure 1]b. We also observed fleshy growths from both upper eyelids without any bleeding, discharge or matting. Brownish discoloration of teeth was observed along with few dystrophic nails [Figure 1]c and [Figure 1]d. Ear, nose and throat referral was made and laryngoscopy revealed multiple tense bullae in the larynx [Figure 1]e. There was no history of breathing difficulty. Parents denied any history of recurrent skin or respiratory infections or similar complaints in any family member. Developmental milestones were adequate for her age. Routine blood investigations and serum immunoglobulin levels were normal. Absence of hair or sweating abnormalities, icthyosis, palmoplantar keratoderma, photosensitivity and acantholysis on skin histopathology ruled out ectodermal dysplasias and other genodermatoses associated with blistering. Ultrasonogram of the abdomen revealed a fatty liver with borderline splenomegaly.{Figure 1}

We identified three different mutations in different exons of the LAMA3A gene on chromosome 18 by molecular analysis of the child's blood...

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Gale Document Number: GALE|A633604989