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DERMATOLOGICAL PATHOLOGIES  Dermatological Pathologies With Only Anecdotal Occurrences CHAPTER OUTLINE 1- Dermatology and trisomy 21 – introduction 2- Common Dermatology and Trisomy 21 – Part 1 3- Common Dermatology and Trisomy 21 – Part 2 4- Dermatological Pathologies Often Associated with Trisomy 21 – Part 1 5- Dermatological Pathologies Often Associated with Trisomy 21 – Part 2 6- Dermatological Pathologies of Anecdotal Occurrence in Trisomy 21 Dr Hervé Walti, a paediatrician at the Institut Jérôme Lejeune, talks to us about dermatology in trisomy 21 in this video and the accompanying fact sheet. Discover the entire ‘Dermatological pathologies’ chapter by clicking on ‘Chapter outline’ to the right of the image at the top of the article. https://youtu.be/iMHviQPJK80 Download the summary sheet Discover the presentation associated with the video below. See references Abass K, Saad H, Abd-Elsayed AA. 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Indian Journal of Paediatric Dermatology 17(1):p 50-52, Jan–Mar 2016.Catalán JA, Rodríguez FA, Yubero MJ, Palisson F, Gana MJ, Krämer SM, Repetto GM. De Novo COL7A1 mutation in a patient with trisomy 21: coexistence of dystrophic epidermolysis bullosa and Down syndrome. Int J Dermatol. 2012 Sep;51(9):1078-81.Carol WLL, Godfried EG, Prakken JR et al. V. Recklinghausen’sche Neurofibromatosis, Atrophodermia vermiculata und kongenitale Herzanomalie als Hauptzeichen eines familiär-hereditären Syndroms. Dermatologica 1940; 81 : 345–365.Choi SY, Park S. Collagenoma in a Patient With Down Syndrome: A Case Report and Review of the Literature. Am J Dermatopathol. 2018 May; 40(5):355-357.Colomba C, Saporito L, Giordano S, Infurnari L, Ajovalasit P, Titone L. Visceral leishmaniasis in a patient with Down syndrome. Eur J Pediatr. 2006 Feb;165(2):140.Critchlow WA, Chang D. Cheilitis granulomatosa: a review. Head Neck Pathol. 2014 Jun;8(2):209-13.Deigendesch N, Hirsiger JR, Bigler MB, Ghosh A, Harder D, Jauch A, Espinosa JM, Recher M, Navarini A, Daikeler T, Berger CT. Tumoural soft tissue calcification in Down syndrome: association with heterozygous germline SAMD9 mutation and hyperactive type I interferon signaling. Rheumatology (Oxford). 2020 Nov 1;59(11):e102-e104.De Berker DA, Wilson CL, Millard PR. Reactive perforating collagenosis and Down's syndrome. Br J Dermatol. 1992 Jan;126(1):71-3.Domingues-Cruz J, Herrera A, Fernandez-Crehuet P, Garcia-Bravo B, Camacho F. Riga-Fede disease associated with postanoxic encephalopathy and trisomy 21: a proposed classification. Pediatr Dermatol. 2007 Nov-Dec;24(6):663-5.Ferreli C, Atzori L, Zucca M, Pistis P, Aste N. Leishmaniasis of the lip in a patient with Down's syndrome. J Eur Acad Dermatol Venereol. 2004 Sep;18(5):599-602.Greco M, Fiorillo MA, Ribuffo D, Corona A, Vitagliano T. Melkersson-Rosenthal syndrome associated with Down syndrome. Eur Rev Med Pharmacol Sci. 2010 Jul;14(7):639-42.Hafiji J, Hook CE, Burrows NP. Hyperkeratotic papules in a child with Down syndrome. Diagnosis: acquired reactive perforating collagenosis in Down syndrome. Pediatr Dermatol. 2011 Jan-Feb;28(1):53-4.Hassanein AH, Gellis SE, Schmidt BA, Greene AK. Agminated atypical Spitz tumor: large nasal lesion in a child with Down syndrome. J Pediatr Surg. 2011 Jul;46(7):1435-7.Hasle H, Friedman JM, Olsen JH, Rasmussen SA. Low risk of solid tumors in persons with Down syndrome. Genet Med. 2016 Nov;18(11):1151-1157.Hattori M, Shimizu A, Ishikawa O. Dystrophic calcinosis cutis of the auricles after injury in Down's syndrome. J Dermatol. 2018 Nov;45(11):e314-e316.Hazelrigg DE. Generalized perforating granuloma annulare: a case report and review of the literature. Cutis. 1979 Jun;23(6):813-4.Hazini AR, Rongioletti F, Rebora A. Pityriasis rubra pilaris and vitiligo in Down's syndrome. Clin Exp Dermatol. 1988 Sep;13(5):334-5.Holden CA, Curley RK. Down's syndrome and pityriasis rubra pilaris. Clin Exp Dermatol. 1989 Jul;14(4):332.Jafarian F, Powell J, Kokta V, Champagne M, Hatami A, McCuaig C, Marcoux D, Savard P. Malignant melanoma in childhood and adolescence: report of 13 cases. J Am Acad Dermatol. 2005 Nov;53(5):816-22.Jansen T, Sander CA, Altmeyer P. Atrophodermia vermiculata: case report and review of the literature. J Eur Acad Dermatol Venereol. 2003 Jan;17(1):70-2.von Kaisenberg CS, Brand-Saberi B, Christ B, Vallian S, Farzaneh F, Nicolaides KH. Collagen type VI gene expression in the skin of trisomy 21 fetuses. Obstet Gynecol. 1998 Mar;91(3):319-23.Kato Y, Yamamoto T. Eruptive collagenoma in a juvenile patient with Down syndrome. An Bras Dermatol. 2022 Sep-Oct;97(5):687-688.Kim KH, Kim KM, Woo SS, Shin SH, Choi JK, Kim SH, Lee JW, Suh IS. Updated solution for diagnosis and management of calcinosis cutis: A retrospective review. Medicine (Baltimore). 2024 Aug 9;103(32):e39139.Kwok-Oleksy C, Berenji M, Argerakis NG, Trepal M, Wallack MK. Subungual melanoma of the great toe in a Hispanic male with Down syndrome: a case report and review of the literature. J Foot Ankle Surg. 2012 May-Jun;51(3):337-41.Lappe U, Aumann V, Mittler U, Gollnick H. Familial urticaria pigmentosa associated with thrombocytosis as the initial symptom of systemic mastocytosis and Down's syndrome. J Eur Acad Dermatol Venereol. 2003 Nov;17(6):718-22.Leahy M, Reidy K, Laing M. Amelanotic melanoma in a patient with trisomy 21: clinical and dermoscopic presentation. BMJ Case Rep. 2023 Aug 18;16(8):e255503.Le C, Bedocs PM. Calcinosis Cutis. 2023 Jul 10. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan.Madke BS, Ghia D, Gadkari R, Nayak C. Cheilitis granulomatosa (Miescher granulomatous macrocheilitis) with trisomy 21. Dermatol Online J. 2012 Jun 15;18(6):7.Mhaske S, Yuwanati MB, Mhaske A, Ragavendra R, Kamath K, Saawarn S. Natal and neonatal teeth: an overview of the literature. ISRN Pediatr. 2013 Aug 18;2013:956269.Mazereeuw-Hautier J, Hernández-Martín A, O'Toole EA, Bygum A et al. Management of congenital ichthyoses: European guidelines of care, part two. Br J Dermatol. 2019 Mar;180(3):484-495.Nakano J, Muto M, Arikawa K, Hirota T, Asagami C. Acral lentiginous melanoma associated with Down's syndrome. J Dermatol. 1993 Jan;20(1):59-60.Nemat K, Abraham S. Cutaneous mastocytosis in childhood. Allergol Select. 2022 Jan 5;6:1-10.Pal S. Collodion ichthyosis with trisomy – 21: A case report. Global Journal For Research Analysis. 2022 June; 06 (11):7-8.Patja K, Pukkala E, Sund R, Iivanainen M, Kaski M. Cancer incidence of persons with Down syndrome in Finland: a population-based study. Int J Cancer. 2006 Apr 1;118(7):1769-72.PNDS ichthyoses héréditaires, HAS 2021.Polat Ekinci A, Kılıç S, Babuna Kobaner G. Early-onset and persistent traumatic granuloma of the tongue (Riga-Fede disease) associated with neonatal teeth and Down syndrome. J Eur Acad Dermatol Venereol. 2019 Mar;33(3):e131-e132.Pollard WL, Beachkofsky TM, Kobayashi TT. Novel R634W c-kit mutation identified in familial mastocytosis. Pediatr Dermatol. 2015 Mar-Apr;32(2):267-70.Polivka L, Rossignol J, Hermine O, Bodemer C, Mastocytoses pédiatriques, Perfectionnement en Pédiatrie, Volume 4, Issue 1, 2021, Pages 29-37.Quenan S, Laffitte E. Pityriasis rubra pilaire: une dermatose mal connue [Pityriasis rubra pilaris]. Rev Med Suisse. 2016 Mar 30;12(512):653-7. French.Reiter N, El-Shabrawi L, Leinweber B, Berghold A, Aberer E. Calcinosis cutis: part I. Diagnostic pathway. J Am Acad Dermatol. 2011 Jul;65(1):1-12; quiz 13-4.Richard A, Gallet B, Comoz F, Louvet S, Michel M, Verneuil L, Cribier B, Dompmartin A. 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Treatment alternatives for sublingual traumatic ulceration (Riga-Fede disease). Pediatr Dent. 2000 Sep-Oct;22(5):413-4.Smith JB, Hogan DJ, Glass LF, Fenske NA. Multiple collagenomas in a patient with Down syndrome. J Am Acad Dermatol. 1995 Nov;33(5 Pt 1):835-7.Terasaki K, Kanekura T, Saruwatari H, Kanzaki T. Classical juvenile pityriasis rubra pilaris in a patient with Down syndrome. Clin Exp Dermatol. 2004 Jan;29(1):49-51.Togawa Y, Nohira G, Shinkai H, Utani A. Collagenoma in Down syndrome. Br J Dermatol. 2003 Mar;148(3):596-7.Villibor F, Marchesini G, Roselino Ribeiro A, Guaré R. Cutaneous leishmaniasis in an indigenous infant with Down’s syndrome: A case report. Asian Pac J Trop Med 2019;12(12):574-576.Zhang X, Yang Y, Shao S. Acquired reactive perforating collagenosis: A case report and review of the literature. Medicine (Baltimore). 2020 May 29;99(22):e20391.Zhang H and Chang JM. Reactive perforating collagenosis. 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DERMATOLOGICAL PATHOLOGIES  Dermatology and trisomy 21 - introduction CHAPTER OUTLINE 1- Dermatology and trisomy 21 – introduction 2- Common Dermatology and Trisomy 21 – Part 1 3- Common Dermatology and Trisomy 21 – Part 2 4- Dermatological Pathologies Often Associated with Trisomy 21 – Part 1 5- Dermatological Pathologies Often Associated with Trisomy 21 – Part 2 6- Dermatological Pathologies of Anecdotal Occurrence in Trisomy 21  Dr Hervé Walti, a paediatrician at the Institut Jérôme Lejeune, introduces us to dermatology in trisomy 21 in this video and the accompanying fact sheet. Discover the entire ‘Dermatological pathologies’ chapter by clicking on ‘Chapter outline’ to the right of the image at the top of the article. https://youtu.be/8stJu6X3E_Q Download the summary sheet Discover the presentation associated with the video below. See References Aase JM. The physical examination : Hands and feet – Minor variants ; in Aase JM (ed) : Diagnostic Dysmorphology. New York, Plenum Medical Book Co, 1990, pp 236–237.Asen D. Secrets in fingerprints : clinical ambitions and uncertainty in dermatoglyphics. CMAJ. 2018 May 14;190(19):E597-E599.Blok J, Jonkman M, Horváth B. The possible association of hidradenitis suppurativa and Down syndrome : is increased amyloid precursor protein expression resulting in impaired Notch signalling the missing link? Br J Dermatol. 2014 Jun;170(6):1375-7.Bull MJ, Trotter T, Santoro SL, Christensen C, Grout RW; COUNCIL ON GENETICS; Burke LW, Berry SA, Geleske TA, Holm I, Hopkin RJ, Introne WJ, Lyons MJ, Monteil DC, Scheuerle A, Stoler JM, Vergano SA, Chen E, Hamid R, Downs SM, Grout RW, Cunniff C, Parisi MA, Ralston SJ, Scott JA, Shapira SK, Spire P. Health Supervision for Children and Adolescents With Down Syndrome. Pediatrics. 2022 May 1;149(5):e2022057010.Carter DM, Jegasothy BV. Alopecia areata and Down syndrome. Arch Dermatol. 1976 Oct;112(10):1397-9.Contaldo M, Lucchese A, Romano A, Della Vella F, Di Stasio D, Serpico R, Petruzzi M. Oral Microbiota Features in Subjects with Down Syndrome and Periodontal Diseases: A Systematic Review. Int J Mol Sci. 2021 Aug 26;22(17):9251.Cummins H. Dermatoglyphic stigmata in mongoloid imbeciles. Anat Rec 1939;73:407-15.Cummins H, Talley C, Platou RV. Palmar dermatoglyphics in mongolism. Pediatrics 1950;5:241-8.Daneshpazhooh M, Nazemi TM, Bigdeloo L, Yoosefi M. Mucocutaneous findings in 100 children with Down syndrome. Pediatr Dermatol. 2007 May-Jun;24(3):317-20.Real de Asua D, Quero M, Moldenhauer F, Suarez C. Clinical profile and main comorbidities of Spanish adults with Down syndrome. Eur J Intern Med. 2015 Jul;26(6):385-91.Ercis M, Balci S, Atakan N. Dermatological manifestations of 71 Down syndrome children admitted to a clinical genetics unit. Clin Genet. 1996 Nov;50(5):317-20.Fölster-Holst R, Rohrer T, Jung AM. Dermatological aspects of the S2k guidelines on Down syndrome in childhood and adolescence. J Dtsch Dermatol Ges. 2018 Oct;16(10):1289-1295.Frisoli ML, Essien K, Harris JE. Vitiligo: Mechanisms of Pathogenesis and Treatment. Annu Rev Immunol. 2020 Apr 26;38:621-648.Fitzpatrick V, Rivelli A, Chaudhari S, Chicoine L, Jia G, Rzhetsky A, Chicoine B. Prevalence of infectious diseases among 6078 individuals with Down syndrome in the United States. J Patient Cent Res Rev. 2022;9:64-9.Herzog V, Kirfel G, Siemes C, Schmitz A. Biological roles of APP in the epidermis. Eur J Cell Biol. 2004 Dec;83(11-12):613-24.von Kaisenberg CS, Brand-Saberi B, Christ B, Vallian S, Farzaneh F, Nicolaides KH. Collagen type VI gene expression in the skin of trisomy 21 fetuses. Obstet Gynecol. 1998 Mar;91(3):319-23.Kanbara Y, Takeuchi C, Mochizuki Y, Osako M, Sasaki M, Miyake H. Medical Needs of Adults with Down Syndrome Presenting at a Regional Medical and Rehabilitation Center in Japan. J Nippon Med Sch. 2023 May 30;90(2):210-219.Kato Y, Yamamoto T. Eruptive collagenoma in a juvenile patient with Down syndrome. An Bras Dermatol. 2022 Sep-Oct;97(5):687-688.Määttä T, Määttä J, Tervo-Määttä T, Taanila A, Kaski M, Iivanainen M. Healthcare and guidelines: a population-based survey of recorded medical problems and health surveillance for people with Down syndrome. J Intellect Dev Disabil. 2011 Jun;36(2):118-26.Malle L, Patel RS, Martin-Fernandez M, Stewart OJ, Philippot Q, Buta S, Richardson A, Barcessat V, Taft J, Bastard P, Samuels J, Mircher C, Rebillat AS, Maillebouis L, Vilaire-Meunier M, Tuballes K, Rosenberg BR, Trachtman R, Casanova JL, Notarangelo LD, Gnjatic S, Bush D, Bogunovic D. Autoimmunity in Down's syndrome via cytokines, CD4 T cells and CD11c+ B cells. Nature. 2023 Mar;615(7951):305-314.Patel D, Li P, Bauer AJ, Castelo-Soccio L. Screening Guidelines for Thyroid Function in Children With Alopecia Areata. JAMA Dermatol. 2017 Dec 1;153(12):1307-1310.Pikora TJ, Bourke J, Bathgate K, Foley KR, Lennox N, Leonard H. Health conditions and their impact among adolescents and young adults with Down syndrome. PLoS One. 2014 May 12;9(5):e96868.PNDS: Trisomie 21, HAS 2020. Téléchargeable sur www.has-sante.frRajabi F, Drake LA, Senna MM, Rezaei N. Alopecia areata: a review of disease pathogenesis. Br J Dermatol. 2018 Nov;179(5):1033-1048.Reed TE, Borgaonkar DS, Conneally PM, Yu P, Nance WE, Christian JC, et al. Dermatoglyphic nomogram for the diagnosis of Down’s syndrome. J Pediatr 1970;77:1024-32.Rork JF, McCormack L, Lal K, Wiss K, Belazarian L. Dermatologic conditions in Down syndrome: A single-center retrospective chart review. Pediatr Dermatol. 2020 Sep;37(5):811-816.Ryan C, Vellody K, Belazarian L, Rork JF. Dermatologic conditions in Down syndrome. Pediatr Dermatol. 2021 Nov;38 Suppl 2:49-57.Schepis C, Romano C. Cutaneous findings in the mentally retarded. Int J Dermatol. 1996 May;35(5):317-22.Schepis C, Barone C, Siragusa M, Pettinato R, Romano C. An updated survey on skin conditions in Down syndrome. Dermatology. 2002;205(3):234-8.Sokoloff A, Dykman M, Sokoloff G, Vellody K, Holland K, Rork J. If my hidradenitis had a voice, this is what it would say: the perspective of a young woman with Down syndrome and hidradenitis suppurativa. Br J Dermatol. 2023 Jul 17;189(2):221-222Sureshbabu R, Kumari R, Ranugha S, Sathyamoorthy R, Udayashankar C, Oudeacoumar P. Phenotypic and dermatological manifestations in Down Syndrome. Dermatol Online J. 2011 Feb 15;17(2):3.Tazi-Ahnini R, di Giovine FS, McDonagh AJ, Messenger AG, Amadou C, Cox A, Duff GW, Cork MJ. Structure and polymorphism of the human gene for the interferon-induced p78 protein (MX1): evidence of association with alopecia areata in the Down syndrome region. Hum Genet. 2000 Jun;106(6):639-45.Vigarios E, de Bataille C, Boulanger M, Fricain JC, Sibaud V. Variations physiologiques de la langue [Normal variations in lingual soft tissue]. Ann Dermatol Venereol. 2015 Oct;142(10):583-92; quiz 581-2, 593-4. French.Wentworth AB, Hand JL, Davis DM, Tollefson MM. Skin concerns in patients with trisomy 21 (Down syndrome): A Mayo Clinic 22-year retrospective review. Pediatr Dermatol. 2021 Nov;38 Suppl 2:73-78....

DERMATOLOGICAL PATHOLOGIES  Common Dermatology and Trisomy 21 - Part 1 CHAPTER OUTLINE 1- Dermatology and trisomy 21 – introduction 2- Common Dermatology and Trisomy 21 – Part 1 3- Common Dermatology and Trisomy 21 – Part 2 4- Dermatological Pathologies Often Associated with Trisomy 21 – Part 1 5- Dermatological Pathologies Often Associated with Trisomy 21 – Part 2 6- Dermatological Pathologies of Anecdotal Occurrence in Trisomy 21 Dr Hervé Walti, a paediatrician at the Institut Jérôme Lejeune, talks to us about dermatology in trisomy 21 in this video and the accompanying fact sheet. Discover the entire ‘Dermatological pathologies’ chapter by clicking on ‘Chapter outline’ to the right of the image at the top of the article. https://youtu.be/NKF6FICqAMs Download the summary sheet Discover the presentation associated with the video below. See References Ali SY, Manne V, Manne R, Himani C. Neurofibromatosis, Down's syndrome, and acquired abnormalities. 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Odontol Revy 1976;27:1-103.Bagatin E, Kamamoto CS, Guadanhim LR, Sanudo A, Dias MC, Barraviera IM, Colombo FC. Prevalence of acne vulgaris in patients with Down syndrome. Dermatology. 2010;220(4):333-9.Bagatin E, Timpano DL, Guadanhim LR, Nogueira VM, Terzian LR, Steiner D, Florez M. Acne vulgaris: prevalence and clinical forms in adolescents from São Paulo, Brazil. An Bras Dermatol. 2014 May-Jun;89(3):428-35.Bilgili SG, Akdeniz N, Karadag AS, Akbayram S, Calka O, Ozkol HU. Mucocutaneous disorders in children with down syndrome: case-controlled study. Genet Couns. 2011;22(4):385-92.Blagec T, Glavina A, Špiljak B, Bešlić I, Bulat V, Lugović-Mihić L. Cheilitis: A cross-sectional study-multiple factors involved in the aetiology and clinical features. Oral Dis. 2023 Nov;29(8):3360-3371.Blok J, Jonkman M, Horváth B. The possible association of hidradenitis suppurativa and Down syndrome: is increased amyloid precursor protein expression resulting in impaired Notch signalling the missing link? Br J Dermatol. 2014 Jun;170(6):1375-7. doi: 10.1111/bjd.12887.Bonifaz A, Saúl A, Mena C, Valencia A, Paredes V, Fierro L, Araiza J. Dermatophyte onychomycosis in children under 2 years of age: experience of 16 cases. J Eur Acad Dermatol Venereol. 2007 Jan;21(1):115-7.Butterworth T, Leoni EP, Beerman H, Wood MG, Strean LP. Cheilitis of mongolism. J Invest Dermatol. 1960 Dec;35:347-52.Camacho, F.M.; Mazuecos, J.; Ferrándiz, L. Cantalejo, C.; Cabello, Á. Phenotypical and dermatological findings of Down syndrome in Southern Spain. Eur. J. Pediat. Derm. 2014, 24, 7–12.Carlstedt K, Krekmanova L, Dahllöf G, Ericsson B, Braathen G, Modéer T. Oral carriage of Candida species in children and adolescents with Down's syndrome. Int J Paediatr Dent. 1996 Jun;6(2):95-100.Carvalho AA, Ferraz LDA, Martelli DRB, Machado RA, Martelli Júnior H. Craniofacial findings in syndromes associated with cafe-au-lait spots: a literature review. Rev Assoc Med Bras (1992). 2023 Jan 9;69(1):195-202.Carter DM, Jegasothy BV. Alopecia areata and Down syndrome. Arch Dermatol. 1976 Oct;112(10):1397-9.Cardoso Fernandes LC, de Araújo Oliveira J, Rabello PM, Santiago BM, Diniz de Carvalho MV, Soriano EP. Cheiloscopy in individuals with Down syndrome and their nonsyndromic biological siblings. J Forensic Odontostomatol. 2019 Sep 30;37(2):9-17.Coattrenec Y, Terrani I, Spoer D. La Rev Med Suisse 2018 ; 14 : 746-50.Contaldo M., Santoro R., Romano A., Loffredo F., Di Stasio D., Della Vella F., Scivetti M., Petruzzi M., Serpico R., Lucchese A. Oral Manifestations in Children and Young Adults with Down Syndrome: A Systematic Review of the Literature. Appl. 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