Research Original Investigation
PLCG2 Deficiency and Dysregulation
6. Tintinger GR, Theron AJ, Steel HC, Anderson R. Accelerated calcium influx and hyperactivation of neutrophils in chronic granulomatous disease. Clin Exp Immunol. 2001;123(2):254-263. 7. Ombrello MJ, Remmers EF, Sun G, et al. Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions. N Engl J Med. 2012;366 (4):330-338. 8. Zhou Q, Lee GS, Brady J, et al. A hypermorphic missense mutation in PLCG2, encoding phospholipase Cγ2, causes a dominantly inherited autoinflammatory disease with immunodeficiency. Am J Hum Genet. 2012;91(4):713-720. 9. Gandhi C, Healy C, Wanderer AA, Hoffman HM. Familial atypical cold urticaria: description of a new hereditary disease. J Allergy Clin Immunol. 2009; 124(6):1245-1250.
10. Petersen HJ, Smith AM. The role of the innate immune system in granulomatous disorders. Front Immunol. 2013;4:120. 11. von Stebut E, Metz M, Milon G, Knop J, Maurer M. Early macrophage influx to sites of cutaneous granuloma formation is dependent on MIP-1α/β released from neutrophils recruited by mast cell-derived TNFα. Blood. 2003;101(1):210-215. 12. Berger M, O’Shea J, Cross AS, et al. Human neutrophils increase expression of C3bi as well as C3b receptors upon activation. J Clin Invest. 1984; 74(5):1566-1571. 13. Miller LJ, Bainton DF, Borregaard N, Springer TA. Stimulated mobilization of monocyte Mac-1 and p150,95 adhesion proteins from an intracellular vesicular compartment to the cell surface. J Clin Invest. 1987;80(2):535-544.
14. Gange RW, Black MM, Carrington P. Defective neutrophil migration in granuloma annulare, necrobiosis lipoidica, and sarcoidosis. Arch Dermatol. 1979;115(1):32-35. 15. Gange RW, Black MM, Carrington P, McKerron R. Defective neutrophil migration in sarcoidosis. Lancet. 1977;2(8034):379-381. 16. Majewski BB, Rhodes EL, Watson B. Neutrophil mobility in granuloma annulare and necrobiosis lipoidica. Clin Exp Dermatol. 1981;6(6):583-590. 17. Zhu WP, Xin XR. Study on the distribution pattern of skin temperature in normal Chinese and detection of the depth of early burn wound by infrared thermography. Ann N Y Acad Sci. 1999; 888:300-313.
NOTABLE NOTES
Jonathan Hutchinson—The Eponyms Physician Mohammed Alsaidan, MD; Brian J. Simmons, BSc; Fleta N. Bray, BSc; Leyre A. Falto-Aizpurua, MD; Robert Denison Griffith, MD; Keyvan Nouri, MD
Jonathan Hutchinson was born in Selby, England, in 1828. He is well known for the eponymous terms named after him and his catchy descriptive terms that were accurate and well-remembered, for instance, the “apple jelly” for lupus vulgaris, the “screwdriver” for central incisor peg teeth, and the “ground glass” for cornea of congenital syphilis.1 He believed that illustrations were a necessary adjunct of clinical observations. He employed an artist to visit the wards and paint pictures of skin lesions, and later he built a museum for his collection of drawings, illustrations, and wax models for pathological and dermatological conditions.2 Hutchinson was a surgeon, dermatologist, ophthalmologist, and pathologist. Of note, his interest in pathology was influenced by James Paget.2 His research on syphilis started after observing severe disease of the skull bones in a young man whose mother had had syphilis. After extensive research, his first book Syphilitic Diseases of Ears and Eye was published in 1863. He named syphilis “the great imitator” and described the triad of hereditary syphilis, which was later named “Hutchinson’s Triad.”2 The list of the eponymous terms named after Hutchinson is long. It includes Hutchinson sign, Hutchinson teeth, Hutchinson freckle, Hutchinson disease, Hutchinson mask, Hutchinson patch, Hutchinson angina, Hutchinson facies, Hutchinson pupil, Hutchinson summer prurigo, Hutchinson syndrome, HutchinsonWeber-Peutz syndrome, and Hutchinson-Gilford progeria.3 Hutchinson medical bibliography has almost 1200 items. He wrote every single word in the 11 volumes of Archives of Surgery, published between 1889 and 1900.1 He also published 4 volumes of Lectures in Clinical Surgery; the first volume had 20 chapters on dermatology.3 Hutchinson had peculiar ideas. He believed that leprosy was caused by eating badly cured fish. He traveled to Norway, Egypt, the Middle East,
634
and India to gather materials in support of his hypothesis. Although Hansen had discovered the leprosy bacillus in 1874, Hutchinson published his last book On Leprosy and Fish Eating in 1906 justifying his beliefs.2 He also believed that alopecia areata was a modified ringworm, or a sequela of ringworm, even though all his microscopic examinations were negative for fungal infection.1 Although he was opposed women to entering the medical profession, he loved his wife with deep affection and wrote letters to her almost daily in periods of separation.2 He saw the person who had the disease first; thus, he would label new disease conditions with the patient’s name. Examples are Mabey malady, Penmann disease, Mortimer malady, and Branford legs.1,2 Hutchinson died in Haslemere, Surrey, England in 1913. On his tombstone was inscribed “A Man of Hope and Forward Looking Mind.”3 Hutchinson’s contributions to medicine and the field of dermatology continue to make an important impact on the recognition and diagnosis of disease. Author Affiliations: Department of Dermatology, Salman bin Abdulaziz University, Al-Kharj, Saudi Arabia (Alsaidan); Department of Dermatology and Cutaneous Surgery, University of Miami Miller School of Medicine, Miami, Florida (Simmons, Bray, Falto-Aizpurua, Griffith, Nouri). Corresponding Author: Mohammed Alsaidan, MD, Department of Dermatology, Salman bin Abdulaziz University, Department of Dermatology and Cutaneous Surgery, University of Miami Miller School of Medicine, 1475 NW 12th Ave, Ste 2175, Miami, FL 33136 ([email protected]). 1. Jackson R. Hutchinson’s Archives of Surgery revisited. Arch Dermatol. 1977; 113(7):961-964. 2. Wales AE. Sir Jonathan Hutchinson, 1828-1913. Br J Vener Dis. 1963;39: 67-86. 3. van Ruth S, Toonstra J. Eponyms of Sir Jonathan Hutchinson. Int J Dermatol. 2008;47(7):754-758.
JAMA Dermatology June 2015 Volume 151, Number 6 (Reprinted)
Copyright 2015 American Medical Association. All rights reserved.
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PLCG2 Deficiency and Dysregulation
6. Tintinger GR, Theron AJ, Steel HC, Anderson R. Accelerated calcium influx and hyperactivation of neutrophils in chronic granulomatous disease. Clin Exp Immunol. 2001;123(2):254-263. 7. Ombrello MJ, Remmers EF, Sun G, et al. Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions. N Engl J Med. 2012;366 (4):330-338. 8. Zhou Q, Lee GS, Brady J, et al. A hypermorphic missense mutation in PLCG2, encoding phospholipase Cγ2, causes a dominantly inherited autoinflammatory disease with immunodeficiency. Am J Hum Genet. 2012;91(4):713-720. 9. Gandhi C, Healy C, Wanderer AA, Hoffman HM. Familial atypical cold urticaria: description of a new hereditary disease. J Allergy Clin Immunol. 2009; 124(6):1245-1250.
10. Petersen HJ, Smith AM. The role of the innate immune system in granulomatous disorders. Front Immunol. 2013;4:120. 11. von Stebut E, Metz M, Milon G, Knop J, Maurer M. Early macrophage influx to sites of cutaneous granuloma formation is dependent on MIP-1α/β released from neutrophils recruited by mast cell-derived TNFα. Blood. 2003;101(1):210-215. 12. Berger M, O’Shea J, Cross AS, et al. Human neutrophils increase expression of C3bi as well as C3b receptors upon activation. J Clin Invest. 1984; 74(5):1566-1571. 13. Miller LJ, Bainton DF, Borregaard N, Springer TA. Stimulated mobilization of monocyte Mac-1 and p150,95 adhesion proteins from an intracellular vesicular compartment to the cell surface. J Clin Invest. 1987;80(2):535-544.
14. Gange RW, Black MM, Carrington P. Defective neutrophil migration in granuloma annulare, necrobiosis lipoidica, and sarcoidosis. Arch Dermatol. 1979;115(1):32-35. 15. Gange RW, Black MM, Carrington P, McKerron R. Defective neutrophil migration in sarcoidosis. Lancet. 1977;2(8034):379-381. 16. Majewski BB, Rhodes EL, Watson B. Neutrophil mobility in granuloma annulare and necrobiosis lipoidica. Clin Exp Dermatol. 1981;6(6):583-590. 17. Zhu WP, Xin XR. Study on the distribution pattern of skin temperature in normal Chinese and detection of the depth of early burn wound by infrared thermography. Ann N Y Acad Sci. 1999; 888:300-313.
NOTABLE NOTES
Jonathan Hutchinson—The Eponyms Physician Mohammed Alsaidan, MD; Brian J. Simmons, BSc; Fleta N. Bray, BSc; Leyre A. Falto-Aizpurua, MD; Robert Denison Griffith, MD; Keyvan Nouri, MD
Jonathan Hutchinson was born in Selby, England, in 1828. He is well known for the eponymous terms named after him and his catchy descriptive terms that were accurate and well-remembered, for instance, the “apple jelly” for lupus vulgaris, the “screwdriver” for central incisor peg teeth, and the “ground glass” for cornea of congenital syphilis.1 He believed that illustrations were a necessary adjunct of clinical observations. He employed an artist to visit the wards and paint pictures of skin lesions, and later he built a museum for his collection of drawings, illustrations, and wax models for pathological and dermatological conditions.2 Hutchinson was a surgeon, dermatologist, ophthalmologist, and pathologist. Of note, his interest in pathology was influenced by James Paget.2 His research on syphilis started after observing severe disease of the skull bones in a young man whose mother had had syphilis. After extensive research, his first book Syphilitic Diseases of Ears and Eye was published in 1863. He named syphilis “the great imitator” and described the triad of hereditary syphilis, which was later named “Hutchinson’s Triad.”2 The list of the eponymous terms named after Hutchinson is long. It includes Hutchinson sign, Hutchinson teeth, Hutchinson freckle, Hutchinson disease, Hutchinson mask, Hutchinson patch, Hutchinson angina, Hutchinson facies, Hutchinson pupil, Hutchinson summer prurigo, Hutchinson syndrome, HutchinsonWeber-Peutz syndrome, and Hutchinson-Gilford progeria.3 Hutchinson medical bibliography has almost 1200 items. He wrote every single word in the 11 volumes of Archives of Surgery, published between 1889 and 1900.1 He also published 4 volumes of Lectures in Clinical Surgery; the first volume had 20 chapters on dermatology.3 Hutchinson had peculiar ideas. He believed that leprosy was caused by eating badly cured fish. He traveled to Norway, Egypt, the Middle East,
634
and India to gather materials in support of his hypothesis. Although Hansen had discovered the leprosy bacillus in 1874, Hutchinson published his last book On Leprosy and Fish Eating in 1906 justifying his beliefs.2 He also believed that alopecia areata was a modified ringworm, or a sequela of ringworm, even though all his microscopic examinations were negative for fungal infection.1 Although he was opposed women to entering the medical profession, he loved his wife with deep affection and wrote letters to her almost daily in periods of separation.2 He saw the person who had the disease first; thus, he would label new disease conditions with the patient’s name. Examples are Mabey malady, Penmann disease, Mortimer malady, and Branford legs.1,2 Hutchinson died in Haslemere, Surrey, England in 1913. On his tombstone was inscribed “A Man of Hope and Forward Looking Mind.”3 Hutchinson’s contributions to medicine and the field of dermatology continue to make an important impact on the recognition and diagnosis of disease. Author Affiliations: Department of Dermatology, Salman bin Abdulaziz University, Al-Kharj, Saudi Arabia (Alsaidan); Department of Dermatology and Cutaneous Surgery, University of Miami Miller School of Medicine, Miami, Florida (Simmons, Bray, Falto-Aizpurua, Griffith, Nouri). Corresponding Author: Mohammed Alsaidan, MD, Department of Dermatology, Salman bin Abdulaziz University, Department of Dermatology and Cutaneous Surgery, University of Miami Miller School of Medicine, 1475 NW 12th Ave, Ste 2175, Miami, FL 33136 ([email protected]). 1. Jackson R. Hutchinson’s Archives of Surgery revisited. Arch Dermatol. 1977; 113(7):961-964. 2. Wales AE. Sir Jonathan Hutchinson, 1828-1913. Br J Vener Dis. 1963;39: 67-86. 3. van Ruth S, Toonstra J. Eponyms of Sir Jonathan Hutchinson. Int J Dermatol. 2008;47(7):754-758.
JAMA Dermatology June 2015 Volume 151, Number 6 (Reprinted)
Copyright 2015 American Medical Association. All rights reserved.
Downloaded From: http://archderm.jamanetwork.com/ by a Central Michigan University User on 10/31/2015
jamadermatology.com
