Infantile Systemic Haylinosis

Title

Infantile Systemic Haylinosis

Creator

Al-Najjadah I; Bang RL; Ghoneim IE; Kanjoor JR

Publisher

The Journal Of Craniofacial Surgery

Date

2003

Subject

Child; Female; Humans; adolescent; Contracture/pathology; Consanguinity; Collagen Diseases/metabolism/pathology; Fibromatosis; Gingival/pathology/surgery; Hyalin/metabolism; Skin Diseases/metabolism/pathology/surgery

Description

Infantile systemic hyalinosis (ISH) is a rare familial autosomal recessive disease of unknown etiology. The clinical features are evident either at birth or within 6 months of life. The presentation is painful progressive joint contractures, thickened skin with hyperpigmentation over prominences, small pearly facial papules, gingival hypertrophy, fleshy nodules in the perianal region, diarrhea, increased susceptibility to bone fractures, infections, and failure to thrive. This is a progressive disorder that may lead to death within first 2 years of life, mostly due to recurrent chest infection and diarrhea. Two patients with ISH, one aged 14 years and another aged 10 years, with all the clinical features, though crippled but surviving, were seen at our center. Debulking of hypertrophic gingiva and excision of some symptomatic skin masses in these patients are indicated for comfort and smooth nursing care of the patients and to allow better rehabilitation.
2003

Rights

Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).

Type

Journal Article

Citation List Month

Backlog

Pages

719-723

Issue

5

Volume

14

Citation

Al-Najjadah I; Bang RL; Ghoneim IE; Kanjoor JR, “Infantile Systemic Haylinosis,” Pediatric Palliative Care Library, accessed December 6, 2021, https://pedpalascnetlibrary.omeka.net/items/show/12839.

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