scholarly journals Xeroderma Pigmentosum in Children: Report of 4 Cases

Health Scope ◽  
2020 ◽  
Vol 9 (4) ◽  
Author(s):  
Ghasem Miri-Aliabad ◽  
Leila Asgarzadeh

: Xeroderma pigmentosum (XP) is a rare genetic disorder inherited in an autosomal recessive pattern. Patients with XP are extremely sensitive to ultraviolet (UV) radiation that leads to defective DNA repair. People with XP often suffer from problems in the eyes, face, neck, and other areas of the body, frequently exposed to sunlight. It is characterized by photosensitivity, dry skin, pigmentary changes of the skin, premature skin aging, and a considerable increase in incidence rates of malignant skin tumors. There is no cure for XP. In this article, we have described four patients from two families, three of whom had malignant skin tumors.

2021 ◽  
Vol 9 (11) ◽  
pp. 2897-2902
Author(s):  
Raheena B ◽  
Shaila Borannavar ◽  
Ananta S Desai

Spinal Muscular Atrophy (SMA) is the second leading genetic disorder inherited in the autosomal recessive pattern due to the absence of the SMN1 gene characterized by loss of motor neurons and progressive muscle wasting, often leading to dependent life and decreased life span. In Ayurveda, this condition can be considered as Kulaja Vyadhi wherein the patient’s Mamsa and Snayu is affected by Vata. This can be regarded as Mamsa-Snayugata Sarvanga Vata. It is said that Prakruta Vata dosha is the life, it is the strength, it is the sustainer of the body, it holds the body and life together. If it is Vikruta it produces Sankocha, Khanja, Kubjatva, Pangutva, Khalli and Soshana of Anga. So, in this disease aggravated Vata does the vitiation of Mamsa and Snayu thus leading to Soshana of both, resulting in Stambha, Nischalikarana of Avayava. A 21years female patient was admitted to our I.P.D with c/o of reduced strength in all four limbs leading to the inability to walk and to maintain erect posture during standing and sitting positions. Based on Ayurvedic principles the patient was initially subjected to Avaranahara Chikitsa followed by Brimhana line of management. Keywords: Mamsagata vata, Snayugata vata, Sarvanga vata, Spinal muscular atrophy (SMA)


2013 ◽  
pp. 143-158
Author(s):  
Nita Agar ◽  
Bridget Ogawa ◽  
Jean-Jacques Morand

Author(s):  
Shigeo IKEDA ◽  
Hajime MIYASATO ◽  
Kazuyoshi SAITO ◽  
Hiroko NAKAYAMA ◽  
Kimiko TAJIMA

1991 ◽  
Vol 117 (1) ◽  
pp. 55-60 ◽  
Author(s):  
Fujio Otsuka ◽  
Tohru Someya ◽  
Yasumasa Ishibashi

Skin Cancer ◽  
2012 ◽  
Vol 27 (2) ◽  
pp. 137-142
Author(s):  
Akira SAITO ◽  
Hidehiko MINAKAWA ◽  
Noriko SAITO ◽  
Emi FUNAYAMA ◽  
Ai NOZAKI ◽  
...  

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