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1

Bhatnagar, Anuj, Rajesh Verma, Biju Vasudevan, and Sushil Kumar. "Keratosis follicularis spinulosa decalvans." Indian Journal of Dermatology, Venereology, and Leprology 82, no. 2 (2016): 214. http://dx.doi.org/10.4103/0378-6323.173590.

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BILEN, N. "Keratosis follicularis spinulosa decalvans." Journal of the European Academy of Dermatology and Venereology 11 (September 1998): S225—S226. http://dx.doi.org/10.1016/s0926-9959(98)95414-9.

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Helbig, D., S. Grabbe, and T. Jansen. "Keratosis follicularis spinulosa decalvans." Der Hautarzt 59, no. 1 (2007): 46–49. http://dx.doi.org/10.1007/s00105-007-1357-2.

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Richard, Gabriela, and Jan C. Oosterwijk. "Keratosis follicularis spinulosa decalvans." Der Hautarzt 49, no. 1 (1998): 61–62. http://dx.doi.org/10.1007/s001050050703.

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Hafsa, Hamraoui, Baybaye Hanane, Douhi Zakia, Soughi Meryem, Elloudi Sara, and Mernissi Fatima Zahra. "Keratosis Follicularis Spinulosa Decalvans: Case Report." Scholars Journal of Medical Case Reports 12, no. 03 (2024): 255–57. http://dx.doi.org/10.36347/sjmcr.2024.v12i03.005.

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Follicular spinulosic decalvans keratosis is a rare X-linked disease affecting both the skin and eyes. The aim of this report is to describe this pathology which manifests itself as progressive scarring alopecia of the scalp, with keratosis pilaris.
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6

Maroon, M. "Keratosis pilaris and scarring alopecia. Keratosis follicularis spinulosa decalvans." Archives of Dermatology 128, no. 3 (1992): 397b—397. http://dx.doi.org/10.1001/archderm.128.3.397b.

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Alfadley, Abdullah, Khalid Al Hawsawi, Bo Hainau, and Khalid Al Aboud. "Two brothers with keratosis follicularis spinulosa decalvans." Journal of the American Academy of Dermatology 47, no. 5 (2002): S275—S278. http://dx.doi.org/10.1067/mjd.2002.110663.

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Sequeira, FionaF, and Elizabeth Jayaseelan. "Keratosis follicularis spinulosa decalvans in a female." Indian Journal of Dermatology, Venereology, and Leprology 77, no. 3 (2011): 325. http://dx.doi.org/10.4103/0378-6323.79708.

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9

Doche, Isabella, Maria Hordinsky, George L. Wilcox, Neusa S. Valente, and Ricardo Romiti. "Substance P in keratosis follicularis spinulosa decalvans." JAAD Case Reports 1, no. 6 (2015): 327–28. http://dx.doi.org/10.1016/j.jdcr.2015.08.001.

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10

Bellet, Jane S., Andrew L. Kaplan, M. Angelica Selim, and Elise A. Olsen. "Keratosis follicularis spinulosa decalvans in a family." Journal of the American Academy of Dermatology 58, no. 3 (2008): 499–502. http://dx.doi.org/10.1016/j.jaad.2007.03.028.

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11

Chintagunta, Sudharani, and Priyanka Jaju. "Keratosis follicularis spinulosa decalvans: A dermoscopic perspective." Indian Journal of Paediatric Dermatology 21, no. 2 (2020): 138. http://dx.doi.org/10.4103/ijpd.ijpd_133_19.

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12

Goh, Michelle SY, Jill Magee, and Alvin H. Chong. "Keratosis follicularis spinulosa decalvans and acne keloidalis nuchae." Australasian Journal of Dermatology 46, no. 4 (2005): 257–60. http://dx.doi.org/10.1111/j.1440-0960.2005.00196.x.

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13

Silverio, M. S., and K. Arriel. "260 Three cases of keratosis follicularis spinulosa decalvans." Journal of Investigative Dermatology 144, no. 12 (2024): S273. http://dx.doi.org/10.1016/j.jid.2024.10.268.

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14

Garman, Mary E., Janna Nunez-Gussman, and Denise Metry. "Keratosis Follicularis Spinulosa Decalvans. What Syndrome Is This?" Pediatric Dermatology 22, no. 2 (2005): 170–74. http://dx.doi.org/10.1111/j.1525-1470.2005.22217.x.

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15

Kumari, Rashmi, Divya Gupta, RakeshKumar Bahunutula, DevinderMohan Thappa, PampaCh Toi, and PradiptaKumar Parida. "Keratosis follicularis spinulosa decalvans showing excellent response to isotretinoin." Indian Journal of Dermatology, Venereology, and Leprology 81, no. 6 (2015): 646. http://dx.doi.org/10.4103/0378-6323.168344.

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16

Malvankar, DipaliD, and S. Sacchidanand. "Keratosis follicularis spinulosa decalvans: A report of three cases." International Journal of Trichology 7, no. 3 (2015): 125. http://dx.doi.org/10.4103/0974-7753.167461.

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17

Oguz Topal, Ilteris, Ilknur Mansuroglu Sahin, Betül Berberoglu, and Mehmet Ozer. "Keratosis follicularis spinulosa decalvans associated with acne keloidalis nuchae." Our Dermatology Online 5, no. 2 (2014): 151–54. http://dx.doi.org/10.7241/ourd.20142.36.

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18

HERD, R. M., and E. C. BENTON. "Keratosis follicularis spinulosa decalvans: report of a new pedigree." British Journal of Dermatology 134, no. 1 (1996): 138–42. http://dx.doi.org/10.1046/j.1365-2133.1996.d01-756.x.

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HERD, R. M., and E. C. BENTON. "Keratosis follicularis spinulosa decalvans: report of a new pedigree." British Journal of Dermatology 134, no. 1 (1996): 138–42. http://dx.doi.org/10.1111/j.1365-2133.1996.tb07854.x.

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20

Lacarrubba, Francesco, Federica Dall?Oglio, Alfredo Rossi, Robert A. Schwartz, and Giuseppe Micali. "Familial keratosis follicularis spinulosa decalvans associated with woolly hair." International Journal of Dermatology 46, no. 8 (2007): 840–43. http://dx.doi.org/10.1111/j.1365-4632.2007.03162.x.

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21

Castori, Marco, Claudia Covaciu, Mauro Paradisi, and Giovanna Zambruno. "Clinical and genetic heterogeneity in keratosis follicularis spinulosa decalvans." European Journal of Medical Genetics 52, no. 1 (2009): 53–58. http://dx.doi.org/10.1016/j.ejmg.2008.09.005.

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22

Chowdhury, Joyeeta, Loknath Ghoshal, and Saikat Bannerjee. "Keratosis Follicularis Spinulosa Decalvans in a female child- a rare presentation." Bangladesh Journal of Medical Science 16, no. 4 (2017): 591–93. http://dx.doi.org/10.3329/bjms.v16i4.33617.

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Congenital alopecia universalis is a very rare presentation. A 6 year old girl came to us with total alopecia and multiple horny keratosis pilaris like skin lesions all over the body. The alopecia was mostly non-scarring with a few patches of scarring over the scalp. Histology from scalp revealed follicular plugging with perifollicular infiltrate of lymphocytes and plasma cells. The case was diagnosed as Keratosis follicularis spinulosa decalvans. This is very rare and even rarer in females.Bangladesh Journal of Medical Science Vol.16(4) 2017 p.591-593
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23

Dalkan, Ceyhun, Asli Kaptanoglu, and Fusun Baba. "Keratosis follicularis spinulosa decalvans in a 15 months Cypriot girl." Indian Journal of Paediatric Dermatology 17, no. 3 (2016): 223. http://dx.doi.org/10.4103/2319-7250.179502.

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24

Porteous, M. E., L. Strain, L. J. Logie, R. M. Herd, and E. C. Benton. "Keratosis follicularis spinulosa decalvans: confirmation of linkage to Xp22.13-p22.2." Journal of Medical Genetics 35, no. 4 (1998): 336–37. http://dx.doi.org/10.1136/jmg.35.4.336.

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25

Aten, Emmelien, Lisa C. Brasz, Dorothea Bornholdt, et al. "Keratosis Follicularis Spinulosa Decalvans is caused by mutations in MBTPS2." Human Mutation 31, no. 10 (2010): 1125–33. http://dx.doi.org/10.1002/humu.21335.

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26

Stojanović, Slobodan, Nada Vučković, and Marina Jovanović. "Overlap Between Ulerythema Ophryogenes and Keratosis Follicularis Spinulosa Decalvans: a Case Report." Serbian Journal of Dermatology and Venereology 7, no. 3 (2015): 129–38. http://dx.doi.org/10.1515/sjdv-2015-0012.

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Abstract Ulerythema ophryogenes and keratosis follicularis spinulosa decalvans are rare folliculocentric keratotic disorders, from the group of follicular genokeratoses, characterized by keratosis pilaris atrophicans: follicular keratotic papules, sometimes with surrounding erythema, which eventually result in fibrosis, atrophy, progressive scarring and permanent hair loss. Ulerythema ophryogenes begins at birth or soon thereafter; it involves the lateral eyebrows, spreads medially and eventually affects the entire eyebrows, cheeks, and less frequently, forehead and asjecebt scalp. Involvement
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27

Sanke, Sarita, Vibhu Mendiratta, Archana Singh, and Ram Chander. "Keratosis follicularis spinulosa decalvans with associated mental retardation: response to isotretinoin." International Journal of Trichology 9, no. 3 (2017): 138. http://dx.doi.org/10.4103/ijt.ijt_25_17.

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28

Sankhwar, Saumya, RishabhKumar Chauhan, Ruchika Tripathi, and SS Pandey. "A rare presentation of keratosis follicularis spinulosa decalvans in female twins." Indian Journal of Dermatology, Venereology and Leprology 84, no. 5 (2018): 645. http://dx.doi.org/10.4103/ijdvl.ijdvl_524_16.

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29

Fong, K., E. K. Wedgeworth, J. E. Lai-Cheong, et al. "MBTPS2 mutation in a British pedigree with keratosis follicularis spinulosa decalvans." Clinical and Experimental Dermatology 37, no. 6 (2012): 631–34. http://dx.doi.org/10.1111/j.1365-2230.2011.04288.x.

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30

Kudligi, Chandramohan, VarshaSakleshpur Prasad, RashmiLaxman Chavan, SirSanjay Ramachandra Tjejaswi, Jayashree Basavaraju, and PradeepVittal Bhagwat. "A Rare Case of Keratosis Follicularis Spinulosa Decalvans Affecting a Female Child." Clinical Dermatology Review 6, no. 1 (2022): 58. http://dx.doi.org/10.4103/cdr.cdr_17_21.

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31

Janjua, Shahbaz A., Nadia Iftikhar, Zrinjka Pastar, and Gregory A. Hosler. "Keratosis Follicularis Spinulosa Decalvans Associated with Acne Keloidalis Nuchae and Tufted Hair Folliculitis." American Journal of Clinical Dermatology 9, no. 2 (2008): 137–40. http://dx.doi.org/10.2165/00128071-200809020-00009.

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32

Bhoyrul, Bevin, and Rodney Sinclair. "Successful Treatment of Keratosis Follicularis Spinulosa Decalvans With an 800-nm Diode Laser." Dermatologic Surgery 46, no. 6 (2020): 849–50. http://dx.doi.org/10.1097/dss.0000000000001892.

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33

Chen, Chong, Chenyang Xu, Huanzheng Li, Manli Jia, and Shaohua Tang. "Novel mutation in MBTPS2 causes keratosis follicularis spinulosa decalvans in a large Chinese family." International Journal of Dermatology 58, no. 4 (2018): 493–96. http://dx.doi.org/10.1111/ijd.14129.

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34

Maheswari, UmaG, V. Chaitra, and SubbiahS Mohan. "Keratosis follicularis spinulosa decalvans: A rare cause of scarring alopecia in two young Indian girls." International Journal of Trichology 5, no. 1 (2013): 29. http://dx.doi.org/10.4103/0974-7753.114713.

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35

van Osch, L. D., A. P. Oranje, F. M. Keukens, P. C. van Voorst Vader, and E. Veldman. "Keratosis follicularis spinulosa decalvans: a family study of seven male cases and six female carriers." Journal of Medical Genetics 29, no. 1 (1992): 36–40. http://dx.doi.org/10.1136/jmg.29.1.36.

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36

Harth, Wolfgang, and Ruthild Linse. "Keratosis follicularis spinulosa decalvans mit persistierendem Ductus arteriosus Botalli und Hypospadie bei einem asiatischen Patienten." Der Hautarzt 50, no. 4 (1999): 295–98. http://dx.doi.org/10.1007/s001050050906.

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37

Puppin, D., S. Aractingi, L. Dubertret, and C. Blanchet-Bardon. "Keratosis follicularis spinulosa decalvans: Report of a Case with Ultrastructural Study and Unsuccessful Trial of Retinoids." Dermatology 184, no. 2 (1992): 133–36. http://dx.doi.org/10.1159/000247521.

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38

Singh, ElangbamNelson, Vijay Paliwal, CM Kuldeep, DeepakK Mathur, and Puneet Bhargava. "Keratosis follicularis spinulosa decalvans in a female child with low intelligence, motor retardation, and short stature." Indian Journal of Paediatric Dermatology 19, no. 4 (2018): 383. http://dx.doi.org/10.4103/ijpd.ijpd_132_17.

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39

Smart, Kimberly, Ivan Rodriguez, and Scott Worswick. "Comorbidities and Treatment Options for Acne Keloidalis Nuchae." Dermatologic Therapy 2024 (May 25, 2024): 1–7. http://dx.doi.org/10.1155/2024/8336926.

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Acne keloidalis nuchae (AKN) is a condition that involves chronic inflammation of the hair follicles on the occipital scalp and posterior neck that often progresses to keloid-like plaques. AKN has most commonly been reported to affect postpubertal males of African descent. The cause of AKN has not been definitively described; however, it is likely an inflammatory response to trauma or infection of the scalp. AKN is associated with chronic scalp folliculitis, hidradenitis suppurativa, folliculitis decalvans, acne mechanica, keratosis follicularis spinulosa decalvans, cutis verticis gyrata, meta
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40

Oosterwijk, J. C., M. J. van der Wielen, E. van de Vosse, E. Voorhoeve, and E. Bakker. "Refinement of the localisation of the X linked keratosis follicularis spinulosa decalvans (KFSD) gene in Xp22.13-p22.2." Journal of Medical Genetics 32, no. 9 (1995): 736–39. http://dx.doi.org/10.1136/jmg.32.9.736.

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Zhang, J., Y. Wang, R. Cheng, et al. "Novel MBTPS2 missense mutation causes a keratosis follicularis spinulosa decalvans phenotype: mutation update and review of the literature." Clinical and Experimental Dermatology 41, no. 7 (2016): 757–60. http://dx.doi.org/10.1111/ced.12889.

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42

Oosterwijk, J. C., Gabriela Richard, Michiel J. R. van der Wielen, et al. "Molecular genetic analysis of two families with keratosis follicularis spinulosa decalvans: refinement of gene localization and evidence for genetic heterogeneity." Human Genetics 100, no. 5-6 (1997): 520–24. http://dx.doi.org/10.1007/s004390050546.

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Oosterwijk, Jan C., Marcel Nelen, Peter M. Van Zandvoort, et al. "Confirmation of X-Linked Inheritance and Provisional Mapping of the Keratosis Follicularis Spinulosa Decalvans Gene on XP in a Large Dutch Family." Ophthalmic Paediatrics and Genetics 13, no. 1 (1992): 27–30. http://dx.doi.org/10.3109/13816819209070050.

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Gimelli, Giorgio, Sabrina Giglio, Orsetta Zuffardi, et al. "Gene dosage of the spermidine/spermine N1-acetyltransferase (SSAT) gene with putrescine accumulation in a patient with a Xp21.1p22.12 duplication and keratosis follicularis spinulosa decalvans (KFSD)." Human Genetics 111, no. 3 (2002): 235–41. http://dx.doi.org/10.1007/s00439-002-0791-6.

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45

McCusker, Sarah, Mark Hamilton, and Paula Beattie. "SG08 The phenotypic spectrum of MBTPS2 mutations: two illustrative cases." British Journal of Dermatology 191, Supplement_1 (2024): i184—i185. http://dx.doi.org/10.1093/bjd/ljae090.390.

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Abstract Mutations in the X-linked gene MBTPS2 are associated with a range of genodermatoses, including keratosis follicularis spinulosa decalvans, and ichthyosis follicularis with atrichia and photophobia (IFAP). Furthermore, some individuals with specific MBTPS2 mutations demonstrate features of IFAP, with additional findings including BRESHECK syndrome (brain anomalies, learning difficulties, ectodermal dysplasia, skeletal deformities, ear or eye anomalies, kidney dysplasia or hypoplasia, Hirschsprung disease, and cleft palate or cryptorchidism) (Bornholdt D, Atkinson TP, Bouadjar B et al.
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46

Pegg, Anthony E. "Spermidine/spermine-N1-acetyltransferase: a key metabolic regulator." American Journal of Physiology-Endocrinology and Metabolism 294, no. 6 (2008): E995—E1010. http://dx.doi.org/10.1152/ajpendo.90217.2008.

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Spermidine/spermine- N1-acetyltransferase (SSAT) regulates cellular polyamine content. Its acetylated products are either excreted from the cell or oxidized by acetylpolyamine oxidase. Since polyamines play critical roles in normal and neoplastic growth and in ion channel regulation, SSAT is a key enzyme in these processes. SSAT is very highly regulated. Its content is adjusted in response to alterations in polyamine content to maintain polyamine homeostasis. Certain polyamine analogs can mimic the induction of SSAT and cause a loss of normal polyamines. This may have utility in cancer chemoth
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47

Sharma, Sonia, Alyson Bryden, Nicola Clayton, et al. "British Hair and Nail SocietyOral presentationsBH01 (P087) The British Hair and Nail Society present a review of our national grand round of challenging hair disorders and the benefits to the wider British Association of Dermatologists membership." British Journal of Dermatology 191, Supplement_1 (2024): i73. http://dx.doi.org/10.1093/bjd/ljae090.148.

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Abstract The British Hair and Nail Society was formed in 2011. We currently have 133 members and invite them to submit challenging cases of hair disorders to our grand round (with relevant history, histopathology and photographs) for review by our expert hair panel. This comprises consultants with hair expertise from around the UK, and together we aim to address the referrers’ queries relating to diagnosis, treatment or both. We appreciate the complexity of hair disorders and the limited number of specialist hair clinics around the country, and therefore we have recently offered the opportunit
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48

Sharma, Sonia, Alyson Bryden, Nicola Clayton, et al. "P087 The British Hair and Nail Society present a review of our national grand round of challenging hair disorders and the benefits to the wider British Association of Dermatologists membership." British Journal of Dermatology 191, Supplement_1 (2024): i56. http://dx.doi.org/10.1093/bjd/ljae090.114.

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Abstract The British Hair and Nail Society was formed in 2011. We currently have 133 members and invite them to submit challenging cases of hair disorders to our grand round (with relevant history, histopathology and photographs) for review by our expert hair panel. This comprises consultants with hair expertise from around the UK, and together we aim to address the referrers’ queries relating to diagnosis, treatment or both. We appreciate the complexity of hair disorders and the limited number of specialist hair clinics around the country, and therefore we have recently offered the opportunit
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49

Elmahi, H., S. Elloudi, S. Gallouj, FZ Mernissi, and M. Rimani. "Keratosis Follicularis Spinulosa Decalvans: A New Observation." February 10, 2017. https://doi.org/10.19070/2332-2977-1700027.

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Keratosis follicularis spinulosa decalvans (KFSD) is a rare condition characterized by diffuse keratosis pilaris with a scarring alopecia of the scalp and associated photophobia, facial erythema, and palmoplantar keratoderma. Although initially described as a sex-linked disorder, several different inheritance patterns have been observed. We describe a patient whose mother and sister were also affected with this condition, consistent with an autosomal dominant genetic transmission. Multiple topical and systemic treatments have been unsuccessful in this patient, attesting to the treatment refrac
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50

H, Elmahi, Elloudi S, Gallouj S, Mernissi FZ, and Rimani M. "Keratosis Follicularis Spinulosa Decalvans: A New Observation." International Journal of Clinical Dermatology & Research, February 10, 2017, 107–9. http://dx.doi.org/10.19070/2332-2977-1700027.

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