Multiple Epidermal Cysts in Lowe Syndrome

Won, Jong Hoon; Lee, Min Jung; Park, Joon Soo; Chung, Hyun Woo; Kim, Jin‐Kyung; Shim, Jeong Su

doi:10.5021/ad.2010.22.4.444

Cited by 13 publications

(15 citation statements)

References 8 publications

(17 reference statements)

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“…These resemble eruptive vellus hair cysts [76] but may also originate from mature hair follicles [77]. Won et al reported large epidermal cysts located on the scalp [78]. The etiology of these findings is unclear but has been related to increased extracellular concentrations of lysosomal enzymes [76].…”

Section: Clinical Manifestations and Managementmentioning

confidence: 99%

The oculocerebrorenal syndrome of Lowe: an update

2016

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The oculocerebrorenal syndrome of Lowe is a rare X-linked multisystemic disorder characterized by the triad of congenital cataracts, intellectual disability, and proximal renal tubular dysfunction. Whereas the ocular manifestations and severe muscular hypotonia are the typical first diagnostic clues apparent at birth, the manifestations of incomplete renal Fanconi syndrome are often recognized only later in life. Other characteristic features are progressive severe growth retardation and behavioral problems, with tantrums. Many patients develop a debilitating arthropathy. Treatment is symptomatic, and the life span rarely exceeds 40 years. The causative oculocerebrorenal syndrome of Lowe gene (OCRL) encodes the inositol polyphosphate 5-phosphatase OCRL-1. OCRL variants have not only been found in classic Lowe syndrome, but also in patients with a predominantly renal phenotype classified as Dent disease type 2 (Dent-2). Recent data indicate that there is a phenotypic continuum between Dent-2 disease and Lowe syndrome, suggesting that there are individual differences in the ability to compensate for the loss of enzyme function. Extensive research has demonstrated that OCRL-1 is involved in multiple intracellular processes involving endocytic trafficking and actin skeleton dynamics. This explains the multi-organ manifestations of the disease. Still, the mechanisms underlying the wide phenotypic spectrum are poorly understood, and we are far from a causative therapy. In this review, we provide an update on clinical and molecular genetic findings in Lowe syndrome and the cellular and physiological functions of OCRL-1.

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Section: Clinical Manifestations and Managementmentioning

confidence: 99%

The oculocerebrorenal syndrome of Lowe: an update

2016

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“…A further case presented with multiple eruption cysts in the oral cavity and hematoma formation [98]. Won et al [134] found various skin lesions reported to be skin colored, deep seated, with soft cystic masses on the temporal and occipital scalp. The histological examination showed each cyst to be lined by true epidermis composed of several layers of stratified squamous epithelium and a granular layer containing keratinous materials arranged in laminated layers.…”

Section: Dermatological Findingsmentioning

confidence: 99%

Lowe syndrome/Dent-2 disease: A comprehensive review of known and novel aspects

2015

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The oculocerebrorenal syndrome of Lowe is a rare X-linked multisystemic disorder characterized by the triad of congenital cataracts, cognitive and behavioral impairment and a renal proximal tubulopathy in almost all of the patients. Whereas the ocular manifestations and severe hypotonia are present at birth, the renal involvement appears within the first months of life. Patients show progressive growth retardation and may develop a debilitating arthropathy. Treatment is symptomatic and life span rarely exceeds 40 yr. The causative OCRL gene, encodes an inositol polyphosphate 5-phosphatase. OCRL mutations were not only found in classic Lowe syndrome, but also in milder affected patients, classified as having Dent-2 disease. There is a phenotypic continuum within patients with Dent-2 disease and Lowe syndrome, suggesting that there are individual differences in the ability to compensate for loss of enzyme function. Researchers have conducted a large amount of work to understand the etiology responsible for the disease. However, the mechanisms leading to the clinical manifestations are still poorly understood and we are far from an effective therapy. In this review, we have included well-established findings and the most recent progress in understanding Lowe syndrome and Dent-2 disease.

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“… 7 There were several case reports of solitary giant EC on the gluteal region 8 , 9 , 13 and several cases of multiple ECs on the scalp. 10 , 11 However, there was just one case report of multiple EC on several locations. 10 In this case report, the patient had a rare clinical manifestation of EC.…”

Section: Discussionmentioning

confidence: 99%

“…3 There are several case reports of giant EC on the gluteal region 8 , 9 and several case reports of multiple ECs on hairy scalp. 10 , 11 However, there was only one case report of multiple ECs which spread to several locations of the body. 12 In this report, we present a case of generalized multiple ECs with a giant EC on the left gluteal region which is an unusual and rare manifestation of EC.…”

Section: Introductionmentioning

confidence: 99%

<p>An Unusual and Rare Case of Generalized Multiple Epidermoid Cysts with a Giant Epidermoid Cyst</p>

Sutedja

Tsaqilah

Sutedja

et al. 2020

IMCRJ

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Epidermoid cyst (EC) is a cyst containing keratin and its breakdown products, that is surrounded by an epidermoid wall. EC can occur in both men and women, especially in young- and middle-aged adults. The clinical features of EC include asymptomatic, well-demarcated, and skin-colored to yellowish subcutaneous or dermal nodules with a punctum on the middle of the lesion which can occur anywhere on the body. This type of cyst is usually solitary with diameter up to 5 cm, or rarely, there are multiple with diameters of more than 5 cm, which is classified as a giant EC. Here, we report a case of generalized multiple ECs with a giant EC on the left gluteal region of a 19-year-old male with complaints of asymptomatic skin-colored nodules with central punctum on the right temple, chest, back, and gluteal regions for five years. Correlation between the clinical and histopathological findings in the form of cysts containing keratin and lined by wall composed of stratified squamous epithelia established the diagnosis of EC. The patient underwent surgical procedures for the skin-colored nodules on the chest, back, and gluteal regions. He also received triamcinolone acetonide intralesional injection for the skin-colored nodule on the right temple. After four months of follow-up, there was no recurrence, and all the skin-colored nodules were completely removed. EC should always be considered when diagnosing a skin-colored nodule even if the manifestations are generalized multiple and giant nodules, as in our case, demonstrating a rare and unusual case of EC, to the best of our knowledge.

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Multiple Epidermal Cysts in Lowe Syndrome

Abstract: Fig. 1. Direct sequencing of OCRL1 gene of this patient disclosed a splice site mutation in exon 14 (IVS13-1G＞A), and his mother was a heterozygous carrier.

Cited by 13 publications

References 8 publications

The oculocerebrorenal syndrome of Lowe: an update

The oculocerebrorenal syndrome of Lowe: an update

Lowe syndrome/Dent-2 disease: A comprehensive review of known and novel aspects

<p>An Unusual and Rare Case of Generalized Multiple Epidermoid Cysts with a Giant Epidermoid Cyst</p>

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