Harlequin-type ichthyosis (English Wikipedia)

Schachner, Lawrence A.; Hansen, Ronald C. (2011). Pediatric Dermatology E-Book. Elsevier Health Sciences. p. 598. ISBN 978-0723436652. Archived from the original on November 5, 2017.

channel5.com

THE SNAKE SKIN WOMAN: EXTRAORDINARY PEOPLE, Channel 5, March 22, 2017.

coventrytelegraph.net

Lillington, Catherine (April 14, 2016). "Inspirational Nusrit Shaheen is still smiling despite battling condition which makes her skin grow ten times faster than normal". Coventry Telegraph. Archived from the original on February 2, 2017. Retrieved January 28, 2017.

doi.org

Glick, JB; Craiglow, BG; Choate, KA; Kato, H; Fleming, RE; Siegfried, E; Glick, SA (January 2017). "Improved Management of Harlequin Ichthyosis With Advances in Neonatal Intensive Care". Pediatrics. 139 (1): e20161003. doi:10.1542/peds.2016-1003. PMID 27999114.
Ahmed, H; O'Toole, E (2014). "Recent advances in the genetics and management of Harlequin Ichthyosis". Pediatric Dermatology. 31 (5): 539–46. doi:10.1111/pde.12383. PMID 24920541. S2CID 34529376.
Shibata, A; Akiyama, M (August 2015). "Epidemiology, medical genetics, diagnosis and treatment of harlequin ichthyosis in Japan". Pediatrics International. 57 (4): 516–22. doi:10.1111/ped.12638. PMID 25857373. S2CID 21632558.
Layton, Lt. Jason (May 2005). "A Review of Harlequin Ichthyosis". Neonatal Network. 24 (3): 17–23. doi:10.1891/0730-0832.24.3.17. ISSN 0730-0832. PMID 15960008. S2CID 38934644.
Shruthi, B.; Nilgar, B. R.; Dalal, A.; Limbani, N. (June 17, 2017). "Harlequin ichthyosis: A rare case". Turkish Journal of Obstetrics and Gynecology. 14 (2) (Turk J Obstet Gynecol ed.). National Library of Medicine: 138–140. doi:10.4274/tjod.63004. PMC 5558415. PMID 28913151.
Harris, AG; Choy, C; Pigors, M; Kelsell, DP; Murrell, DF (2016). "Cover image: Unpeeling the layers of harlequin ichthyosis". Br J Dermatol. 174 (5): 1160–1. doi:10.1111/bjd.14469. PMID 27206363.
Kun-darbois, JD; Molin, A; Jeanne-pasquier, C; Pare, A; Benateau, H; Veyssiere, A (2016). "Facial features in Harlequin ichthyosis: Clinical finding about 4 cases". Rev Stomatol Chir Macillofac Chir Orale. 117 (1): 51–3. doi:10.1016/j.revsto.2015.11.007. PMID 26740202.
Rajpopat, S; Moss, C; Mellerio, J; et al. (2011). "Harlequin ichthyosis: a review of clinical and molecular findings in 45 cases". Arch Dermatol. 147 (6): 681–6. doi:10.1001/archdermatol.2011.9. PMID 21339420.
Akiyama, M (2010). "ABCA12 mutations and autosomal recessive congenital ichthyosis: a review of genotype/phenotype correlations and of pathogenetic concepts". Hum Mutat. 31 (10): 1090–6. doi:10.1002/humu.21326. PMID 20672373. S2CID 30083095.
Kelsell, DP; Norgett, EE; Unsworth, H; et al. (2005). "Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis". Am J Hum Genet. 76 (5): 794–803. doi:10.1086/429844. PMC 1199369. PMID 15756637.
Mitsutake, S; Suzuki, C; Akiyama, M; et al. (2010). "ABCA12 dysfunction causes a disorder in glucosylceramide accumulation during keratinocyte differentiation". J Dermatol Sci. 60 (2): 128–9. doi:10.1016/j.jdermsci.2010.08.012. PMID 20869849.
Hovnanian, A (July 2005). "Harlequin ichthyosis unmasked: a defect of lipid transport". Journal of Clinical Investigation. 115 (7): 1708–1710. doi:10.1172/JCI25736. PMC 1159155. PMID 16007249.
Tanahashi, K; Sugiura, K; Sato, T; Akiyama, M (2016). "Noteworthy clinical findings of harlequin ichthyosis: digital autoamputation caused by cutaneous constriction bands in a case with novel ABCA12 mutations". Br J Dermatol. 174 (3): 689–91. doi:10.1111/bjd.14228. PMID 26473995. S2CID 34511814.
Chang, LM; Reyes, M (2014). "A case of harlequin ichthyosis treated with isotretinoin". Dermatol Online J. 20 (2): 2. doi:10.5070/D3202021540. PMID 24612573.
Chan, YC; Tay, YK; Tan, LK; Happle, R; Giam, YC (2003). "Harlequin ichthyosis in association with hypothyroidism and rheumatoid arthritis". Pediatr Dermatol. 20 (5): 421–6. doi:10.1046/j.1525-1470.2003.20511.x. PMID 14521561. S2CID 19314083.
Shruthi, Belide; Nilgar, B.R.; Dalal, Anita; Limbani, Nehaben (June 1, 2017). "Harlequin ichthyosis: A rare case" (PDF). Journal of Turkish Society of Obstetric and Gynecology. 14 (2): 138–140. doi:10.4274/tjod.63004. PMC 5558415. PMID 28913151.
Rajpopat, Shefali; Moss, Celia; Mellerio, Jemima; Vahlquist, Anders; Gånemo, Agneta; Hellstrom-Pigg, Maritta; Ilchyshyn, Andrew; Burrows, Nigel; Lestringant, Giles; Taylor, Aileen; Kennedy, Cameron; Paige, David; Harper, John; Glover, Mary; Fleckman, Philip; Everman, David; Fouani, Mohamad; Kayserili, Hulya; Purvis, Diana; Hobson, Emma; Chu, Carol; Mein, Charles; Kelsell, David; O'Toole, Edel (2011). "Harlequin Ichthyosis". Archives of Dermatology. 147 (6): 681–6. doi:10.1001/archdermatol.2011.9. PMID 21339420.
Waring, J. I. (1932). "Early mention of a harlequin fetus in America". Archives of Pediatrics & Adolescent Medicine. 43 (2): 442. doi:10.1001/archpedi.1932.01950020174019.

firstskinfoundation.org

"First Skin Foundation, "Andrea A.* - Moreno Valley, CA - 2020". First Skin Foundation. Retrieved May 5, 2023.

fox19.com

Madden, Ursula (August 26, 2013). "Mid-South woman with rare genetic condition defies odds, deliverers healthy baby". Fox19 Cincinnati. Archived from the original on August 29, 2013. Retrieved August 27, 2013.

galenos.com.tr

cms.galenos.com.tr

Shruthi, Belide; Nilgar, B.R.; Dalal, Anita; Limbani, Nehaben (June 1, 2017). "Harlequin ichthyosis: A rare case" (PDF). Journal of Turkish Society of Obstetric and Gynecology. 14 (2): 138–140. doi:10.4274/tjod.63004. PMC 5558415. PMID 28913151.

goodhousekeeping.com

"[UPDATED] I'm the First Woman with Harlequin Ichthyosis to Give Birth". January 5, 2017. Archived from the original on April 27, 2017. Retrieved April 27, 2017.

health24.com

Wilke, Marelize (July 6, 2018). "This strange disorder gives children very hard, thick skin". News24. Retrieved August 8, 2020.

hindustantimes.com

"Nagpur: Harlequin baby dies two days after birth". hindustantimes.com. June 13, 2016. Archived from the original on June 14, 2016. Retrieved June 14, 2016.

indiatvnews.com

"India's first 'Harlequin Baby' born without any external skin dies two days after birth". India TV. June 14, 2016. Archived from the original on June 17, 2016. Retrieved June 14, 2016.

itv.com

"Harlequin Ichthyosis". Archived from the original on October 14, 2008. Retrieved November 10, 2008.

jci.org

Hovnanian, A (July 2005). "Harlequin ichthyosis unmasked: a defect of lipid transport". Journal of Clinical Investigation. 115 (7): 1708–1710. doi:10.1172/JCI25736. PMC 1159155. PMID 16007249.

medizzy.com

journal.medizzy.com

Shahab, Aiman (September 7, 2020). "Juvenile Idiopathic Arthritis In Infant With Harlequin Ichthyosis". MEDizzy Journal. Archived from the original on September 24, 2020. Retrieved September 7, 2020.

medlineplus.gov

"Harlequin ichthyosis". Genetics Home Reference. November 2008. Archived from the original on July 28, 2017. Retrieved July 18, 2017.

news24.com

"21-month-old boy defies the odds, thrives living with Harlequin Ichthyosis". News24. December 31, 2014. Archived from the original on January 1, 2015. Retrieved January 1, 2015.

newsday.co.tt

"Special Olympics Trinidad and Tobago mourns top ex-athlete - Trinidad and Tobago Newsday". Newsday. January 23, 2023. Retrieved May 5, 2023.

nih.gov

pubmed.ncbi.nlm.nih.gov

Glick, JB; Craiglow, BG; Choate, KA; Kato, H; Fleming, RE; Siegfried, E; Glick, SA (January 2017). "Improved Management of Harlequin Ichthyosis With Advances in Neonatal Intensive Care". Pediatrics. 139 (1): e20161003. doi:10.1542/peds.2016-1003. PMID 27999114.
Ahmed, H; O'Toole, E (2014). "Recent advances in the genetics and management of Harlequin Ichthyosis". Pediatric Dermatology. 31 (5): 539–46. doi:10.1111/pde.12383. PMID 24920541. S2CID 34529376.
Shibata, A; Akiyama, M (August 2015). "Epidemiology, medical genetics, diagnosis and treatment of harlequin ichthyosis in Japan". Pediatrics International. 57 (4): 516–22. doi:10.1111/ped.12638. PMID 25857373. S2CID 21632558.
Layton, Lt. Jason (May 2005). "A Review of Harlequin Ichthyosis". Neonatal Network. 24 (3): 17–23. doi:10.1891/0730-0832.24.3.17. ISSN 0730-0832. PMID 15960008. S2CID 38934644.
Shruthi, B.; Nilgar, B. R.; Dalal, A.; Limbani, N. (June 17, 2017). "Harlequin ichthyosis: A rare case". Turkish Journal of Obstetrics and Gynecology. 14 (2) (Turk J Obstet Gynecol ed.). National Library of Medicine: 138–140. doi:10.4274/tjod.63004. PMC 5558415. PMID 28913151.
Harris, AG; Choy, C; Pigors, M; Kelsell, DP; Murrell, DF (2016). "Cover image: Unpeeling the layers of harlequin ichthyosis". Br J Dermatol. 174 (5): 1160–1. doi:10.1111/bjd.14469. PMID 27206363.
Kun-darbois, JD; Molin, A; Jeanne-pasquier, C; Pare, A; Benateau, H; Veyssiere, A (2016). "Facial features in Harlequin ichthyosis: Clinical finding about 4 cases". Rev Stomatol Chir Macillofac Chir Orale. 117 (1): 51–3. doi:10.1016/j.revsto.2015.11.007. PMID 26740202.
Rajpopat, S; Moss, C; Mellerio, J; et al. (2011). "Harlequin ichthyosis: a review of clinical and molecular findings in 45 cases". Arch Dermatol. 147 (6): 681–6. doi:10.1001/archdermatol.2011.9. PMID 21339420.
Vergotine, RJ; De lobos, MR; Montero-fayad, M (2013). "Harlequin ichthyosis: a case report". Pediatr Dent. 35 (7): 497–9. PMID 24553270.
Akiyama, M (2010). "ABCA12 mutations and autosomal recessive congenital ichthyosis: a review of genotype/phenotype correlations and of pathogenetic concepts". Hum Mutat. 31 (10): 1090–6. doi:10.1002/humu.21326. PMID 20672373. S2CID 30083095.
Kelsell, DP; Norgett, EE; Unsworth, H; et al. (2005). "Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis". Am J Hum Genet. 76 (5): 794–803. doi:10.1086/429844. PMC 1199369. PMID 15756637.
Mitsutake, S; Suzuki, C; Akiyama, M; et al. (2010). "ABCA12 dysfunction causes a disorder in glucosylceramide accumulation during keratinocyte differentiation". J Dermatol Sci. 60 (2): 128–9. doi:10.1016/j.jdermsci.2010.08.012. PMID 20869849.
Hovnanian, A (July 2005). "Harlequin ichthyosis unmasked: a defect of lipid transport". Journal of Clinical Investigation. 115 (7): 1708–1710. doi:10.1172/JCI25736. PMC 1159155. PMID 16007249.
Tanahashi, K; Sugiura, K; Sato, T; Akiyama, M (2016). "Noteworthy clinical findings of harlequin ichthyosis: digital autoamputation caused by cutaneous constriction bands in a case with novel ABCA12 mutations". Br J Dermatol. 174 (3): 689–91. doi:10.1111/bjd.14228. PMID 26473995. S2CID 34511814.
Chang, LM; Reyes, M (2014). "A case of harlequin ichthyosis treated with isotretinoin". Dermatol Online J. 20 (2): 2. doi:10.5070/D3202021540. PMID 24612573.
Chan, YC; Tay, YK; Tan, LK; Happle, R; Giam, YC (2003). "Harlequin ichthyosis in association with hypothyroidism and rheumatoid arthritis". Pediatr Dermatol. 20 (5): 421–6. doi:10.1046/j.1525-1470.2003.20511.x. PMID 14521561. S2CID 19314083.
Shruthi, Belide; Nilgar, B.R.; Dalal, Anita; Limbani, Nehaben (June 1, 2017). "Harlequin ichthyosis: A rare case" (PDF). Journal of Turkish Society of Obstetric and Gynecology. 14 (2): 138–140. doi:10.4274/tjod.63004. PMC 5558415. PMID 28913151.
Rajpopat, Shefali; Moss, Celia; Mellerio, Jemima; Vahlquist, Anders; Gånemo, Agneta; Hellstrom-Pigg, Maritta; Ilchyshyn, Andrew; Burrows, Nigel; Lestringant, Giles; Taylor, Aileen; Kennedy, Cameron; Paige, David; Harper, John; Glover, Mary; Fleckman, Philip; Everman, David; Fouani, Mohamad; Kayserili, Hulya; Purvis, Diana; Hobson, Emma; Chu, Carol; Mein, Charles; Kelsell, David; O'Toole, Edel (2011). "Harlequin Ichthyosis". Archives of Dermatology. 147 (6): 681–6. doi:10.1001/archdermatol.2011.9. PMID 21339420.

ncbi.nlm.nih.gov

Shruthi, B.; Nilgar, B. R.; Dalal, A.; Limbani, N. (June 17, 2017). "Harlequin ichthyosis: A rare case". Turkish Journal of Obstetrics and Gynecology. 14 (2) (Turk J Obstet Gynecol ed.). National Library of Medicine: 138–140. doi:10.4274/tjod.63004. PMC 5558415. PMID 28913151.
Kelsell, DP; Norgett, EE; Unsworth, H; et al. (2005). "Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis". Am J Hum Genet. 76 (5): 794–803. doi:10.1086/429844. PMC 1199369. PMID 15756637.
Hovnanian, A (July 2005). "Harlequin ichthyosis unmasked: a defect of lipid transport". Journal of Clinical Investigation. 115 (7): 1708–1710. doi:10.1172/JCI25736. PMC 1159155. PMID 16007249.
Shruthi, Belide; Nilgar, B.R.; Dalal, Anita; Limbani, Nehaben (June 1, 2017). "Harlequin ichthyosis: A rare case" (PDF). Journal of Turkish Society of Obstetric and Gynecology. 14 (2): 138–140. doi:10.4274/tjod.63004. PMC 5558415. PMID 28913151.

nypost.com

"Woman whose skin grew too fast for her body dies at 32". May 25, 2022.

post-gazette.com

Hamill, Sean D. (June 27, 2010). "City girl aims to educate about her skin disease". Pittsburgh Post-Gazette. Archived from the original on June 30, 2010. Retrieved June 27, 2010.

rarediseases.org

"Ichthyosis, Harlequin Type – NORD (National Organization for Rare Disorders)". NORD (National Organization for Rare Disorders). 2006. Archived from the original on April 26, 2017. Retrieved April 26, 2017.

rep-am.com

"HAPPENINGS IN THE HILLS: Wamogo honors its Superhero". Republican-American. Republican American. April 10, 2024. Retrieved October 9, 2024.

scmp.com

"'Girl behind the face' tackles cyber bullies". scmp.com. June 13, 2016. Archived from the original on June 14, 2016.

semanticscholar.org

api.semanticscholar.org

Ahmed, H; O'Toole, E (2014). "Recent advances in the genetics and management of Harlequin Ichthyosis". Pediatric Dermatology. 31 (5): 539–46. doi:10.1111/pde.12383. PMID 24920541. S2CID 34529376.
Shibata, A; Akiyama, M (August 2015). "Epidemiology, medical genetics, diagnosis and treatment of harlequin ichthyosis in Japan". Pediatrics International. 57 (4): 516–22. doi:10.1111/ped.12638. PMID 25857373. S2CID 21632558.
Layton, Lt. Jason (May 2005). "A Review of Harlequin Ichthyosis". Neonatal Network. 24 (3): 17–23. doi:10.1891/0730-0832.24.3.17. ISSN 0730-0832. PMID 15960008. S2CID 38934644.
Akiyama, M (2010). "ABCA12 mutations and autosomal recessive congenital ichthyosis: a review of genotype/phenotype correlations and of pathogenetic concepts". Hum Mutat. 31 (10): 1090–6. doi:10.1002/humu.21326. PMID 20672373. S2CID 30083095.
Tanahashi, K; Sugiura, K; Sato, T; Akiyama, M (2016). "Noteworthy clinical findings of harlequin ichthyosis: digital autoamputation caused by cutaneous constriction bands in a case with novel ABCA12 mutations". Br J Dermatol. 174 (3): 689–91. doi:10.1111/bjd.14228. PMID 26473995. S2CID 34511814.
Chan, YC; Tay, YK; Tan, LK; Happle, R; Giam, YC (2003). "Harlequin ichthyosis in association with hypothyroidism and rheumatoid arthritis". Pediatr Dermatol. 20 (5): 421–6. doi:10.1046/j.1525-1470.2003.20511.x. PMID 14521561. S2CID 19314083.

trinidadexpress.com

"Devan's short, painful, meaningful life". January 26, 2023. Retrieved June 18, 2024.

web.archive.org

"Ichthyosis, Harlequin Type – NORD (National Organization for Rare Disorders)". NORD (National Organization for Rare Disorders). 2006. Archived from the original on April 26, 2017. Retrieved April 26, 2017.
"Harlequin ichthyosis". Genetics Home Reference. November 2008. Archived from the original on July 28, 2017. Retrieved July 18, 2017.
Schachner, Lawrence A.; Hansen, Ronald C. (2011). Pediatric Dermatology E-Book. Elsevier Health Sciences. p. 598. ISBN 978-0723436652. Archived from the original on November 5, 2017.
Lillington, Catherine (April 14, 2016). "Inspirational Nusrit Shaheen is still smiling despite battling condition which makes her skin grow ten times faster than normal". Coventry Telegraph. Archived from the original on February 2, 2017. Retrieved January 28, 2017.
"Harlequin Ichthyosis". Archived from the original on October 14, 2008. Retrieved November 10, 2008.
"Man Survives Rare Skin-Shedding Disease - Staying Healthy News Story - KGTV San Diego". 10news. November 16, 2004. Archived from the original on February 5, 2012. Retrieved May 5, 2023.
Madden, Ursula (August 26, 2013). "Mid-South woman with rare genetic condition defies odds, deliverers healthy baby". Fox19 Cincinnati. Archived from the original on August 29, 2013. Retrieved August 27, 2013.
"Mid-South woman born with rare skin condition dies unexpectedly". WMCActionNews5. March 7, 2017. Archived from the original on March 12, 2017. Retrieved April 29, 2017.
"[UPDATED] I'm the First Woman with Harlequin Ichthyosis to Give Birth". January 5, 2017. Archived from the original on April 27, 2017. Retrieved April 27, 2017.
"21-month-old boy defies the odds, thrives living with Harlequin Ichthyosis". News24. December 31, 2014. Archived from the original on January 1, 2015. Retrieved January 1, 2015.
Hamill, Sean D. (June 27, 2010). "City girl aims to educate about her skin disease". Pittsburgh Post-Gazette. Archived from the original on June 30, 2010. Retrieved June 27, 2010.
"'Girl behind the face' tackles cyber bullies". scmp.com. June 13, 2016. Archived from the original on June 14, 2016.
"Nagpur: Harlequin baby dies two days after birth". hindustantimes.com. June 13, 2016. Archived from the original on June 14, 2016. Retrieved June 14, 2016.
"India's first 'Harlequin Baby' born without any external skin dies two days after birth". India TV. June 14, 2016. Archived from the original on June 17, 2016. Retrieved June 14, 2016.
Shahab, Aiman (September 7, 2020). "Juvenile Idiopathic Arthritis In Infant With Harlequin Ichthyosis". MEDizzy Journal. Archived from the original on September 24, 2020. Retrieved September 7, 2020.

wmcactionnews5.com

"Mid-South woman born with rare skin condition dies unexpectedly". WMCActionNews5. March 7, 2017. Archived from the original on March 12, 2017. Retrieved April 29, 2017.

worldcat.org

search.worldcat.org

Layton, Lt. Jason (May 2005). "A Review of Harlequin Ichthyosis". Neonatal Network. 24 (3): 17–23. doi:10.1891/0730-0832.24.3.17. ISSN 0730-0832. PMID 15960008. S2CID 38934644.