Through the Lens
Chronic granulomatous disease Kikkeri Narayanasetty Naveen, Adagadde Venkataramana Pradeep1 Departments of Dermatology and 1 Opthamology, Sri Dharmasthala Manjunatheshwara College of Medical Sciences and Hospital, Dharwad, Karnataka, India
Access this article online Website: www.idoj.in DOI: 10.4103/2229-5178.148957 Quick Response Code:
Address for correspondence: Dr. Kikkeri Narayanasetty Naveen, Department of Dermatology, No ‑ 10, Skin OPD, Sri Dharmasthala Manjunatheshwara College of Medical Sciences and Hospital, Sattur, Dharwad ‑ 580 009, Karnataka, India. E‑mail: naveenkn80@ yahoo.com
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A 13‑year‑old boy presented with lesions around his eyes since two months. He had been having repeated episodes of similar lesions around eyes, mouth, and perianal region since eight months of age for which he was taking treatment at nearby hospitals. He had recurrent respiratory tract infections. He was born out of second‑degree consanguineous marriage. There was no similar history in the family. A detailed physical examination revealed yellow granulomatous nodules and furuncles around the eyes, nose, and oral cavity [Figure 1]. There was growth retardation, but mental development was normal for his age. Acanthosis nigricans was present over both axillae. Postinflammatory hyperpigmentation was present throughout the body. Systemic examination did not reveal hepatosplenomegaly. Laboratory investigations such as complete hemogram and HIV status were within normal limits. Ophthalmic examination revealed 2 × 2 cm furuncle over the lateral canthi with purulent discharge and healed corneal ulcer with leukomatous corneal opacity. Left eye showed ankyloblepheron with lid edema [Figure 2]. Fundus examination was within normal limits. The features were suggestive of chronic granulomatous disease. Nitroblue tetrazolium test was not
performed as it was unavailable. The patient was started on oral cotrimoxazole and itraconazole and is presently under follow up.
Figure 1: Granulomatous nodules around eyes, nose, and mouth
Figure 2: Left eye with lid edema, ankyloblepheron, and granulomatous nodule on the lateral canthus
Chronic granulomatous disease (CGD) is a congenital immunodeficiency disorder of phagocyte bactericidal function with X‑linked recessive inheritance, characterized clinically by granulomatous lesions in the skin, lymph nodes, lung, liver, gastrointestinal tract, and bones. The main pathology in this disease is a defect in the subunits of nicotinamide adenine dinucleotide phosphate oxidase, whose normal functioning is essential for killing phagocytosed bacteria by neutrophils using the myeloperoxidehalide system. They develop recurrent bacterial infections by Staphylococcus aureus, Chromobacterium violaceum, Nocardia species, Serratia maresecens, legionella, and atypical mycobacteria. Fungal infection by aspergillus is also common. The nitroblue tetrazolium test is used to confirm CGD.[1] The disease may become apparent in the first two years of life or may be delayed into the second decade of life. Neonatal pustulosis may be the initial manifestation. Impetiginized periorificial rash is highly characteristic and most commonly seen around the nostrils, ears, mouth, and eyes. Firm, translucent, papular lesions may be found around the eyes, nose, lips, and on the cheeks. Other
Indian Dermatology Online Journal - January-February 2015 - Volume 6 - Issue 1
Naveen and Pradeep: Chronic granulomatous disease
frequent pyogenic infections include liver abscesses, osteomyelitis, arthritis, pneumonia, skin sepsis, and perianal abscesses.[2]
2.
Paige DG, Gennery AR, Cant AJ. The neonate. In: Burns T, Breathnach S, Cox N, Griffiths C, editors. Rook’s Textbook of Dermatology. Oxford: Wiley‑Blackwell; 2010. p. 17.73‑4.
REFERENCES 1.
Nair PS, Moorthy PK, Suprakasan S, Jayapalan S, Preethi K. Chronic granulomatous disease. Indian J Dermatol Venereol Leprol 2005;71:199‑201.
Indian Dermatology Online Journal - January-February 2015 - Volume 6 - Issue 1
Cite this article as: Naveen KN, Pradeep AV. Chronic granulomatous disease. Indian Dermatol Online J 2015;6:64-5. Source of Support: Nil, Conflict of Interest: Nil.
65
Copyright of Indian Dermatology Online Journal is the property of Medknow Publications & Media Pvt. Ltd. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use.
Chronic granulomatous disease Kikkeri Narayanasetty Naveen, Adagadde Venkataramana Pradeep1 Departments of Dermatology and 1 Opthamology, Sri Dharmasthala Manjunatheshwara College of Medical Sciences and Hospital, Dharwad, Karnataka, India
Access this article online Website: www.idoj.in DOI: 10.4103/2229-5178.148957 Quick Response Code:
Address for correspondence: Dr. Kikkeri Narayanasetty Naveen, Department of Dermatology, No ‑ 10, Skin OPD, Sri Dharmasthala Manjunatheshwara College of Medical Sciences and Hospital, Sattur, Dharwad ‑ 580 009, Karnataka, India. E‑mail: naveenkn80@ yahoo.com
64
A 13‑year‑old boy presented with lesions around his eyes since two months. He had been having repeated episodes of similar lesions around eyes, mouth, and perianal region since eight months of age for which he was taking treatment at nearby hospitals. He had recurrent respiratory tract infections. He was born out of second‑degree consanguineous marriage. There was no similar history in the family. A detailed physical examination revealed yellow granulomatous nodules and furuncles around the eyes, nose, and oral cavity [Figure 1]. There was growth retardation, but mental development was normal for his age. Acanthosis nigricans was present over both axillae. Postinflammatory hyperpigmentation was present throughout the body. Systemic examination did not reveal hepatosplenomegaly. Laboratory investigations such as complete hemogram and HIV status were within normal limits. Ophthalmic examination revealed 2 × 2 cm furuncle over the lateral canthi with purulent discharge and healed corneal ulcer with leukomatous corneal opacity. Left eye showed ankyloblepheron with lid edema [Figure 2]. Fundus examination was within normal limits. The features were suggestive of chronic granulomatous disease. Nitroblue tetrazolium test was not
performed as it was unavailable. The patient was started on oral cotrimoxazole and itraconazole and is presently under follow up.
Figure 1: Granulomatous nodules around eyes, nose, and mouth
Figure 2: Left eye with lid edema, ankyloblepheron, and granulomatous nodule on the lateral canthus
Chronic granulomatous disease (CGD) is a congenital immunodeficiency disorder of phagocyte bactericidal function with X‑linked recessive inheritance, characterized clinically by granulomatous lesions in the skin, lymph nodes, lung, liver, gastrointestinal tract, and bones. The main pathology in this disease is a defect in the subunits of nicotinamide adenine dinucleotide phosphate oxidase, whose normal functioning is essential for killing phagocytosed bacteria by neutrophils using the myeloperoxidehalide system. They develop recurrent bacterial infections by Staphylococcus aureus, Chromobacterium violaceum, Nocardia species, Serratia maresecens, legionella, and atypical mycobacteria. Fungal infection by aspergillus is also common. The nitroblue tetrazolium test is used to confirm CGD.[1] The disease may become apparent in the first two years of life or may be delayed into the second decade of life. Neonatal pustulosis may be the initial manifestation. Impetiginized periorificial rash is highly characteristic and most commonly seen around the nostrils, ears, mouth, and eyes. Firm, translucent, papular lesions may be found around the eyes, nose, lips, and on the cheeks. Other
Indian Dermatology Online Journal - January-February 2015 - Volume 6 - Issue 1
Naveen and Pradeep: Chronic granulomatous disease
frequent pyogenic infections include liver abscesses, osteomyelitis, arthritis, pneumonia, skin sepsis, and perianal abscesses.[2]
2.
Paige DG, Gennery AR, Cant AJ. The neonate. In: Burns T, Breathnach S, Cox N, Griffiths C, editors. Rook’s Textbook of Dermatology. Oxford: Wiley‑Blackwell; 2010. p. 17.73‑4.
REFERENCES 1.
Nair PS, Moorthy PK, Suprakasan S, Jayapalan S, Preethi K. Chronic granulomatous disease. Indian J Dermatol Venereol Leprol 2005;71:199‑201.
Indian Dermatology Online Journal - January-February 2015 - Volume 6 - Issue 1
Cite this article as: Naveen KN, Pradeep AV. Chronic granulomatous disease. Indian Dermatol Online J 2015;6:64-5. Source of Support: Nil, Conflict of Interest: Nil.
65
Copyright of Indian Dermatology Online Journal is the property of Medknow Publications & Media Pvt. Ltd. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use.
