Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2012 Jan;3(1):25-7.
doi: 10.4103/2229-5178.93490.

Lipoid proteinosis in a six-year-old child

Surajit Nayak  1 , Basanti Acharjya
Affiliations
Case Reports

Lipoid proteinosis in a six-year-old child

Surajit Nayak et al. Indian Dermatol Online J. 2012 Jan.

Abstract

Lipoid proteinosis (LiP) (OMIM 247100) is a rare autosomal recessive disease caused by loss of function mutations in the extracellular matrix protein 1 gene, ECM1, on chromosome 1q21. Clinically characterized by hoarseness in early infancy, followed by waxy papules and plaques on the face and body along with pox-like and acneiform scars. We report here a 6-year-old female child with LiP, who presented to our OPD for recurrent vesicullobullous lesions and beaded lesions over eyelid margins.

Keywords: Childhood; lipoid proteinosis; moniliform blepharosis.

PubMed Disclaimer

Conflict of interest statement

Conflict of Interest: None declared.

Figures

Figure 1
Figure 1
Beaded lesions over both eyelid margins
Figure 2
Figure 2
Multiple scars over elbows, upper arm and lower back
Figure 3
Figure 3
Mucosal infiltration
Figure 4
Figure 4
Pebbling in lower lip mucosa
Figure 5
Figure 5
Histopathological study showing PAS-positive hyaline material around capillaries and adnexal structures
See this image and copyright information in PMC

References

    1. Urbach E, Wiethe C. Lipoidosis Cutis et Mucosae. Virchows Arch A Pathol [Pathol Anat] 1929;273:285–319.
    1. Breathnach SM. Lipoid proteinosis. In: Burns T, Breathnach SM, Cox N, Griffiths C, editors. Rook's Textbook of Dermatology. 7th ed. Oxford: Blackwell publishing; 2004. pp. 57.56–7.
    1. Galadari I, Al-Kuwaiti R. Lipoid proteinosis: A case report. Int J Dermatol. 2004;43:368–70. - PubMed
    1. Nanda A, Alsaleh QA, AL-Sabah H, Ali AM, Anim JT. Lipoid proteinosis: Report of four siblings and brief review of literature. Pediatr Dermatol. 2001;18:21–6. - PubMed
    1. Di Giandomenico S, Masi R, Cassandrini D, El-Hachem M, De Vito R, Bruno C, et al. Lipoid proteinosis: Case report and review of the literature. Acta Otorhinolaryngol Ital. 2006;26:162–7. - PMC - PubMed

Publication types