Moniliform Blepharosis of Lipoid Proteinosis

Belliveau, Michel J.; Alkhotani, Alaa; Ali, Asim

doi:10.1001/jamaophthalmol.2015.0688

Cited by 6 publications

(4 citation statements)

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“…Moniliform blepharosis is a pathognomonic sign. The presence of multiple beaded papules along the eyelid margins and inner canthus and papular infiltration can be quite subtle in some individuals [Belliveau et al, 2015]. Vesicles can be one of the earliest clinical manifestations in up to 50% of affected neonates.…”

Section: Discussionmentioning

confidence: 99%

Dual Diagnosis of Trichohepatoenteric Syndrome and Lipoid Proteinosis in a Turkish Child

Eser,

Ayyildiz Emecen,

Topyildiz

et al. 2023

Mol Syndromol

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Introduction: Trichohepatoenteric syndrome (THES) is caused by pathogenic mutations in TTC37 and SKIV2L genes and characterized by intractable diarrhea, facial dysmorphism, hair abnormality, immunodeficiency, and skin abnormalities. Lipoid proteinosis is caused by pathogenic mutations in ECM1 gene and characterized by deposition of hyaline-like material in various tissues resulting in heterogenous clinical findings. Case Presentation: Four years after the diagnosis and management of THES, due to new clinical findings, another reason for underlying features of the patient was considered. WES was performed and a homozygous c.507delT (p.Arg171GlyfsTer7) mutation in the ECM1 gene was detected. Conclusion: This case provides an example of co-existence of multiple genetic defects in a single patient born to consanguineous parents.

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Section: Discussionmentioning

confidence: 99%

Dual Diagnosis of Trichohepatoenteric Syndrome and Lipoid Proteinosis in a Turkish Child

Eser,

Ayyildiz Emecen,

Topyildiz

et al. 2023

Mol Syndromol

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“…The most consistent clinical feature is hoarseness of voice due to laryngeal infiltration, often from birth or infancy ( Larkin et al, 2018). The classical cutaneous symptom is moniliform blepharosis; it is a pathognomonic sign characterized by presence of multiple papules that line up on the eyelid margins (Belliveau et al, 2015).…”

Section: Discussion:-mentioning

confidence: 99%

Parotitis in Lipoid Proteinosis

Meriem¹,

Zahra²,

Amal³

et al. 2020

IJAR

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“…Patients present with thickened and waxy skin, increased susceptibility to minor trauma and impaired wound healing manifested by formation of blisters, papules, erosions, ulcerations, crusts and pock-like atrophic scars [5]. The development of non-inflammatory papules, known as moniliform blepharosis, which may be present along the margins of both eyelids, is regarded to be a pathognomonic sign of lipoid proteinosis [6,7]. Other findings that have been reported in the course of this disease include alopecia and nail dystrophy [5,8].…”

Section: Wprowadzeniementioning

confidence: 99%

“…Rozwój niezapalnych grudek wzdłuż brzegów powiek (tzw. moniliform blepharosis) jest uznawany za objaw patognomoniczny lipoproteinozy [6,7]. Opisywano przypadki łysienia i dystrofii paznokci w przebiegu tej choroby [5,8].…”

Section: Omówienieunclassified

Lipoid proteinosis: different clinical features in two siblings

Łuczak¹,

Wojtowicz-Prus²,

Śmigiel³

et al. 2019

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Introduction. Lipoid proteinosis is a rare autosomal recessive disease caused by mutations in the extracellular matrix protein 1 gene (ECM1). Abnormal function of ECM1 protein leads to accumulation of hyaline material in tissues. Objective. To present a case of a 6-year-old patient and his 4-year-old sister with different clinical features of lipoid proteinosis. Case report. A six-year-old boy with chronic hoarseness presented to the Dermatology Department because of polymorphic cutaneous lesions: erythema, erosions, crusts, atrophic scars, foci of hypopigmentation and hyperpigmentation. Histological examination of the skin revealed hyaline deposits. The patient's younger sister presented with beaded papules on the margin of the eyelids and chronic hoarseness. A genetic test revealed that ECM1 was compound heterozygous in both siblings. Conclusion. One type of ECM1 gene mutation can determine various clinical manifestations of lipoid proteinosis. STRESzczEniE Wprowadzenie. Lipoproteinoza jest rzadką chorobą dziedziczoną autosomalnie recesywnie, związaną z gromadzeniem się złogów hialiny w tkankach wskutek mutacji w genie kodującym białko 1 macierzy zewnątrzkomórkowej (ECM1). Cel pracy. Przedstawienie przypadku 6-letniego pacjenta oraz jego 4-letniej siostry, u których stwierdzono objawy lipoproteinozy o różnym nasileniu. Opis przypadku. Sześcioletni chłopiec z przewlekłą chrypką został przyjęty do oddziału dermatologicznego z powodu polimorficznych zmian skórnych: rumieni, nadżerek, strupów, blizn zanikowych, ognisk odbarwień i przebarwień, zlokalizowanych głównie na szyi, w okolicy pach, zgięć łokciowych i podkolanowych. W badaniu histopatologicznym skóry stwierdzono złogi hialiny. U młodszej siostry pa

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Moniliform Blepharosis of Lipoid Proteinosis

Cited by 6 publications

References 0 publications

Dual Diagnosis of Trichohepatoenteric Syndrome and Lipoid Proteinosis in a Turkish Child

Dual Diagnosis of Trichohepatoenteric Syndrome and Lipoid Proteinosis in a Turkish Child

Parotitis in Lipoid Proteinosis

Lipoid proteinosis: different clinical features in two siblings

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