Dyskeratosis Congenita With Macular Cutaneous Amyloid Deposits

Llistosella, E

doi:10.1001/archderm.1984.01650460121034

Cited by 17 publications

(4 citation statements)

References 7 publications

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“…Naegeli-Franceschetti-Jadassohn syndrome (8) produces a hyperpigmentation that is more patchy, and palmoplantar, discrete warty lesions and nail dystrophy, both of which were absent in our patients. The reticulate pigmentation is similar to that seen in dyskeratosis congenita, and cutaneous amyloid deposits have been noted in this condition (9). However, in dyskeratosis congenita the pigmentation usually follows the nail changes, often commences on the neck, rarely becomes as extensive as in our patients, and is associated with atrophy and telangiectasia, which were not features in these boys (10).…”

Section: Discussionsupporting

confidence: 77%

An X‐Linked Reticulate Pigmentary Disorder With Systemic Manifestations: Report of a Second Family

Adès

Rogers

Sillence

1993

Pediatric Dermatology

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Another family manifesting an X-linked, reticulate, pigmentary dermatosis, previously familial cutaneous amyloidosis, has been observed. The disorder is characterized in males in this family by onset in the first year of recurrent episodes of respiratory illness including pneumonia, a progressive reticulate pigmentation of the skin, hypohidrosis, and photophobia. The absence of amyloid deposits in the skin in both the mother and sons confirms that less emphasis should be given to the word "amyloidosis" in naming the disorder.

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Section: Discussionsupporting

confidence: 77%

An X‐Linked Reticulate Pigmentary Disorder With Systemic Manifestations: Report of a Second Family

Adès

Rogers

Sillence

1993

Pediatric Dermatology

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“…Of these, repeated skin friction appears to be particularly germane to the development of PLCA, 29 but the underlying factors (cutaneous, neural or inflammatory) that provoke PLCA in susceptible individuals as a consequence of skin friction are unknown. The literature also contains reports of associations of familial PLCA in a few kindreds with pachyonychia congenita, 30 dyskeratosis congenita 31 and familial palmoplantar keratoderma 32 . PLCA has also been observed in individuals with various connective tissue disorders, including systemic lupus erythematosus, 33 systemic sclerosis, 34 dermatomyositis, 35 primary biliary cirrhosis and scleroderma 36 and Raynaud’s phenomenon with livedo reticularis 37 .…”

Section: Conditions Associated With Primary Localized Cutaneous Amylomentioning

confidence: 99%

New insight into mechanisms of pruritus from molecular studies on familial primary localized cutaneous amyloidosis

Tanaka

Arita

Lai-Cheong

et al. 2009

British Journal of Dermatology

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Macular and lichen amyloidosis are common variants of primary localized cutaneous amyloidosis (PLCA) in which clinical features of pruritus and skin scratching are associated with histological findings of deposits of amyloid staining on keratinous debris in the papillary dermis. Most cases are sporadic, but an autosomal dominant family history may be present in up to 10% of cases, consistent with a genetic predisposition in some individuals. Familial PLCA has been mapped to a locus on 5p13.1-q11.2 and in 2008 pathogenic heterozygous missense mutations were identified in the OSMR gene, which encodes oncostatin M receptor beta (OSMRbeta), an interleukin (IL)-6 family cytokine receptor. OSMRbeta is expressed in various cell types, including keratinocytes, cutaneous nerves and nociceptive neurones in dorsal root ganglia; its ligands are oncostatin M and IL-31. All pathogenic mutations are clustered in the fibronectin-III repeat domains of the extracellular part of OSMRbeta, sites that are critical for receptor dimerization (with either gp130 or IL-31RA), and lead to defective signalling through Janus kinase-signal transducers and activators of transcription, extracellular signal-regulated protein kinase 1/2 and phosphoinositide 3 kinase/Akt pathways. Elucidating the molecular pathology of familial PLCA provides new insight into mechanisms of pruritus in human skin, findings that may have relevance to developing novel treatments for skin itching. This review provides a clinicopathological and molecular update on familial PLCA.

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“…A small number of these cases have been biopsied, so it is unknown if the lesions were already dysplastic when these patients were being examined. These areas of leukoplakia are predisposed to transform into SCCs [31,33,35,[38][39][40][41][42]. A small number of cases show a rapid reappearance of lesions and/or widespread metastasis to the lymph nodes and lung [35,41,42].…”

Section: Discussionmentioning

confidence: 99%

Dyskeratosis Congenita: Squamous Cell Carcinoma of the Buccal Mucosa on a Background of Lichen Planus – A Case Report During COVID-19 Pandemic

Salah¹,

Emaetig²,

Mahjoubi³

et al. 2021

COR

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Dyskeratosis Congenita is a severe disorder that involves several systems in the human body and is well-known for its transmission hereditarily through generations. The triad of a) reticular atrophy of the skin with pigmentation b) dystrophy of the nails c) leukoplakia of the oral mucosa characterises this uncommon disorder, which most commonly affects men. One of the key reasons for premature death in this disease is malignant transformation within areas of mucosal hyperkeratosis. In Dyskeratosis Congenita, the simultaneous existence of squamous cell carcinoma (SCC) with lichen planus and or lichenoid reactions in the mucosa of the oral cavity is a rare, stated condition. This report discusses a case of a Libyan male patient affected by Dyskeratosis Congenita that ended with buccal mucosal squamous cell carcinoma developed on a lichen planus background after thirty years of suffering at the age of 64.

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Dyskeratosis Congenita With Macular Cutaneous Amyloid Deposits

Cited by 17 publications

References 7 publications

An X‐Linked Reticulate Pigmentary Disorder With Systemic Manifestations: Report of a Second Family

An X‐Linked Reticulate Pigmentary Disorder With Systemic Manifestations: Report of a Second Family

New insight into mechanisms of pruritus from molecular studies on familial primary localized cutaneous amyloidosis

Dyskeratosis Congenita: Squamous Cell Carcinoma of the Buccal Mucosa on a Background of Lichen Planus – A Case Report During COVID-19 Pandemic

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