Olmsted syndrome in twins

Cambiaghi, S.

doi:10.1001/archderm.131.6.738

Cited by 19 publications

(32 citation statements)

References 0 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Although some authors reported good results with surgery, 10,14,26 full-thickness excision and skin grafting is unreliable because hyperkeratosis may recur at the grafted site and may develop at the donor site as a result of a Koebner phenomenon. Methotrexate 25 and systemic corticosteroids 8,15,19 do not control the lesions. Systemic retinoids appear to be the most promising therapeutic agents.…”

Section: Discussionmentioning

confidence: 97%

See 1 more Smart Citation

Olmsted Syndrome?Palmoplantar and Periorificial Keratodermas: Association with Malignant Melanoma

Dessureault

Poulin

Bourcier

et al. 2003

Journal of Cutaneous Medicine and Surgery: Incorporating Medica

View full text Add to dashboard Cite

An association between malignant epithelial tumors and Olmsted syndrome has already been reported. The association of malignant melanoma with other types of palmoplantar keratodermas has been reported. This may suggest a predisposition to melanocytic as well as squamous cell malignancies in congenital keratodermas. Oral retinoids appear to be the most promising treatment for Olmsted syndrome and for other symptomatic keratodermas.

show abstract

Section: Discussionmentioning

confidence: 97%

“…Genetic inheritance is suggested from reports of two cases with family aggregation. 10,15 The diagnosis is done from the clinical features. The course is progressive and chronic with major disability.…”

Section: Sommairementioning

confidence: 99%

Olmsted Syndrome?Palmoplantar and Periorificial Keratodermas: Association with Malignant Melanoma

Dessureault

Poulin

Bourcier

et al. 2003

Journal of Cutaneous Medicine and Surgery: Incorporating Medica

View full text Add to dashboard Cite

show abstract

“…Extracutaneous manifestations are uncommon and include deafness, mental retardation, joint laxity, osteopenia, and osteolysis, secondary infections, and squamous cell carcinoma developing in areas of PPK (Mevorah et al, 2005). Although most cases reported to date have been sporadic, both autosomal dominant (Cambiaghi et al, 1995) and X-linked recessive inheritance (Larregue et al, 2000;Haghighi et al, 2013) have been reported and shown to be associated with mutations in TRPV3 (MIM 607066) which encodes the transient receptor potential vanilloid 3 (Lai-Cheong et al, 2012;Lin et al, 2012) and X-linked MBTPS2 (MIM 300294), encoding the membrane-bound transcription factor protease, site 2, respectively (Haghighi et al, 2013).…”

mentioning

confidence: 99%

Olmsted Syndrome Caused by a Homozygous Recessive Mutation in TRPV3

Eytan

Fuchs-Telem

Mevorach

et al. 2014

Journal of Investigative Dermatology

View full text Add to dashboard Cite

identified in patients with punctate PPK. Although PPK is a rare disorder, diseases characterized by hyperkeratosis and hyperproliferation are common, and identification of the underlying cellular mechanisms in this familial keratoderma may contribute to our future ability to understand and treat the more prevalent hyperkeratotic diseases. REFERENCESBennion SD, Patterson JW (1984) Keratosis punctata palmaris et plantaris and adenocarcinoma of the colon. A possible familial association of punctate keratoderma and gastrointestinal malignancy. J Am Acad Dermatol 10:587-91 Chamcheu JC, Siddiqui IA, Syed DN et al. (2011) Keratin gene mutations in disorders of human skin and its appendages. Arch Biochem Biophys 508:123-37 Cui H, Gao M, Wang W et al. (2013) Six mutations in AAGAB confirm its pathogenic role in Chinese punctate palmoplantar keratoderma patients. J Invest Dermatol 133:2631-4 Emmert S, Kuster W, Hennies HC et al. (2003) 47 patients in 14 families with the rare genodermatosis keratosis punctata palmoplantaris Buschke-Fischer-Brauer. Eur J Dermatol 13: 16-20 Giehl KA, Eckstein GN, Pasternack SM et al. (2012) Nonsense mutations in AAGAB cause punctate palmoplantar keratoderma type BuschkeFischer-Brauer. Am J Hum Genet 91:754-9 Kelsell DP, Stevens HP (1999) The palmoplantar keratodermas: much more than palms and soles. Mol Med Today 5:107-13 Kiritsi D, Chmel N, Arnold AW et al. (2013) Novel and recurrent AAGAB mutations: clinical variability and molecular consequences.

show abstract

“…Such lesions appeared as linear, streaklike hyperkeratoses 8,10,14,16,[27][28][29] and follicular keratosis-like keratotic papules. 2,8,10,[13][14][15]22,28,30 In the current case and in two monozygotic twins, 18 scanning electron microscopy of hair revealed changes such as twisting of hair shafts, trichorrhexis nodosa, transverse fractures, and disturbance of the cuticle cell pattern. …”

Section: Discussionmentioning

confidence: 96%

“…23 The mode of inheritance has not been clearly established. An autosomal dominant or X-linked dominant trait 18 and an X-linked recessive transmission 23 have been suggested. In one report 12 the disease was present in 3 generations and an affected father transmitted it to his son.…”

Section: Other Manifestationsmentioning

confidence: 99%