I-Cell disease: an unusual cause of gingival enlargement

Taylor, Nora; Shuff, R Y

doi:10.1038/sj.bdj.4808370

Cited by 10 publications

(6 citation statements)

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“…Taylor and Shuff in 1994 reported a 6‐month‐old female Caucasian with marked enlargement of maxillary and mandibular gingivae, and unusual facies, which developed into the more established features of I‐cell disease [17].…”

Section: Discussionmentioning

confidence: 99%

Severe gingival hyperplasia in a child with I‐cell disease

Lee

O’Donnell

2003

Int J Paed Dentistry

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I-cell disease (mucolipidosis II) is a rare metabolic disorder resulting from the deficiency of a specific lysosomal enzyme, N-acetylglucosamine-1-phosphotransferease. The disease presents as a mental and motor developmental delay with oral manifestations that include severe gingival hyperplasia usually seen before one year of age. The life expectancy of children with this condition is poor, with death usually occurring around the fifth year. A case report of a 3-year-old Pakistani male, with I-cell disease, is presented. The chief dental concerns of the parents were his swollen gums and delayed tooth eruption. Supportive treatment only was initiated. Differential diagnosis for severe gingival overgrowth in young patients should take account of this rare metabolic disorder in addition to hereditary and idiopathic fibromatosis and drug associated gingival overgrowth.

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Section: Discussionmentioning

confidence: 99%

Severe gingival hyperplasia in a child with I‐cell disease

Lee

O’Donnell

2003

Int J Paed Dentistry

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“…13 Patients with I-cell disease manifest several characteristic features including thickening of the skin, gingival overgrowth, as well as low body height and mental retardation. 14,15 Thus, it can be hypothesized that one or several lysosomal enzymes with lowered activity are responsible for the establishment of such features seen in I-cell diseases. Since lysosomal cysteine proteinases, mainly cathepsin-L and -B, are responsible for the digestion of long-lived cellular proteins, we hypothesized that the gingival overgrowth seen in patients with hypertension treated with calcium antagonist and that seen in I-cell disease was mediated by impaired cathepsin activity and subsequent matrix accumulation.…”

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confidence: 99%

Cathepsin-L, a Key Molecule in the Pathogenesis of Drug-Induced and I-Cell Disease-Mediated Gingival Overgrowth

Nishimura

Naruishi

et al. 2002

The American Journal of Pathology

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Drug-induced gingival overgrowth, the chronic side effect of calcium antagonists, is frequently seen due to the increase in patients with hypertension, although the etiology of the disease is largely unknown. I-cell disease, which accompanies gingival overgrowth, is characterized by a deficiency in UDP-N-acetyl-glucosamine and is classified as one of the lysosomal storage diseases. Here, we hypothesized that a common mechanism may underlie the etiology of gingival overgrowth seen in patients treated with calcium antagonist and in patients with I-cell disease. A calcium antagonist, nifedipine, specifically suppressed cathepsin-L activity and mRNA expression, but not that of cathepsin-B in cultured gingival fibroblasts. The activity of cathepsin-L was suppressed up to 50% at 24 hours after treatment of the cells with the reagent. The selective suppression of cathepsin-L activity appeared not to be dependent on Ca(2+), since treatment of the cells with thapsigargin suppressed both cathepsin-B and -L activity. Mice deficient in the cathepsin-L gene manifested enlarged gingivae. Histological observation of the gingivae demonstrated typical features of acanthosis, a phenotype very similar to that of experimentally induced gingival overgrowth. Since cathepsin-L deficiency was reported to be associated with thickening of the skin, impaired cathepsin-L activity may play a key role in the establishment of skin and gingival abnormalities seen in I-cell disease. In addition, reduced cathepsin-L activity may play an important role in inducing drug-induced gingival overgrowth.

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“…I-cell disease is distinguished from Hurler syndrome by very high levels of acid hydrolases, rapid psychomotor retardation and early death. Gingival enlargement is observed in Hurler's syndrome but is less pronounced, limited in its distribution to the maxillary anterior region and occurs later at about 2 years of age 6) . In this case, gingival enlargement was identified on the whole region of both the maxillary and mandibular alveolar gingivae, but it was especially pronounced in the region of the first deciduous molars.…”

Section: Discussionmentioning

confidence: 98%

“…The provisional diagnosis of I-cell disease was initially made from the presenting gingival appearance since gingival enlargement of both the maxillary and mandibular alveolus gingivae is one of the most distinctive observations in this disease. Therefore, the identification of oral abnormalities by dentists could be an important contribution to the diagnosis of this fatal condition 6) . Gingival enlargement is also observed as a chronic side effect in patients with hypertension receiving calcium antagonists, immunosuppressive drugs or anti-epileptic drugs.…”

Section: Discussionmentioning

confidence: 99%

“…Furthermore, an apoptosis-related study using human skin fibroblasts obtained from an I-cell disease patient showed that lysosomal enzymes are important inducers/mediators of apoptosis, in which I-cells are resistant to the apoptosis induced by several unrelated apoptogenic agents, most likely due to the difference in activity and/or compartmentalization of cathepsins 7) . There are some clinical reports of the management of juvenile patients with gingival enlargement [1][2][3]5,6) . It is difficult to estimate the recurrence of gingival enlargement after gingivectomy.…”

Section: Discussionmentioning

confidence: 99%

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Gingivectomy for gingival enlargement in a child with I-cell disease: a report of case

Tsuruyama

Sugano

Miyamoto

et al. 2005

Pediatric Dental Journal

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I-cell disease is a rare autorecessive metabolic disorder that is classified as one of the lysosomal storage diseases. Gingival enlargement is a representative oral manifestation of patients with I-cell disease. This report describes a case with a satisfactory prognosis after gingivectomy for gingival enlargement accompanying I-cell disease in a 2-year-old boy. The chief complaints were both eating disorders and night terrors accompanied by gingival enlargement of both the maxillary and mandibular alveolar gingivae, especially in the region of the first deciduous molars. Although it was supposed that there were various hazards associated with gingivectomy caused by aortic incompetence, sigmoidal spinal curvature and hypertrophy of the laryngopharynx, gingivectomy with an internal bevel incision was performed under general anesthesia to improve the chief complaints. A piece of the enlarged gingivae dissected during the operation was examined histopathologically, and the histopathological diagnosis was gingival hyperplasia. The patient's signs and symptoms of the eating disorders and night terrors have improved since the gingivectomy operation. Recurrence of the gingival enlargement has not been identified up to 18 months after the surgery. It is therefore concluded that gingivectomy for gingival enlargement accompanying I-cell disease was effective for this 2-year-old boy.

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I-Cell disease: an unusual cause of gingival enlargement

Cited by 10 publications

References 0 publications

Severe gingival hyperplasia in a child with I‐cell disease

Severe gingival hyperplasia in a child with I‐cell disease

Cathepsin-L, a Key Molecule in the Pathogenesis of Drug-Induced and I-Cell Disease-Mediated Gingival Overgrowth

Gingivectomy for gingival enlargement in a child with I-cell disease: a report of case

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