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Case Reports
. 2017 Sep-Oct;8(5):352-354.
doi: 10.4103/idoj.IDOJ_334_16.

Autosomal Recessive Cutis Laxa Type II: Report of Novel Mutation in a Child

Rakesh Kumar  1 , Sheetal Sharda  1 , Vimlesh Soni  1 , Kaniyappan Nambiyar  2
Affiliations
Case Reports

Autosomal Recessive Cutis Laxa Type II: Report of Novel Mutation in a Child

Rakesh Kumar et al. Indian Dermatol Online J. 2017 Sep-Oct.

Abstract

Autosomal recessive cutis laxa type-II (ARCLII) is a spectrum of clinical disorders with prenatal and postnatal growth retardation, cutis laxa, dysmorphism, and skeletal abnormalities. We report the case of a 14-month-old boy with developmental delay, hypotonia, dysmorphism, and loose skin. A novel homozygous variant was observed in ATP6VOA2 gene. Clinical spectrum of ARCLII is highly heterogeneous and molecular analysis should be done to confirm the diagnosis.

Keywords: Autosomal recessive cutis laxa; dysmorphism; novel mutation.

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Conflict of interest statement

There are no conflicts of interest.

Figures

Figure 1
Figure 1
(a) Facial dysmorphism of the child at 14 months of age. (b) Redundant and loose skin over abdomen with small umbilical hernia. (c) Joint laxity and prominent loose skin folds. (d) MRI T2-weighted images showing features of dysmyelination prominent in frontal lobes with mild ex-vacuo enlargement of lateral ventricles
Figure 2
Figure 2
(a) Skin biopsy shows diminished elastic fibres and mild mononuclear inflammatory infiltrates in the dermis (H and E, ×20). (b) Skin biopsy shows sparse fragmented elastic fibres (Verhoeff van Gieson, ×20)
See this image and copyright information in PMC

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