Journal of Cosmetics, Dermatological Sciences and Applications, 2011, 1, 43-45
doi:10.4236/jcdsa.2011.12007 Published Online June 2011 (www.SciRP/journal/jcdsa)
43 Syed Ghulam Shabbir (1923-2002) and His Syndrome
Khalid Al Aboud1, Daifullah Al Aboud2
1Dermatology Department, King Faisal Hospital, Makkah, Saudi Arabia; 2Dermatology Department, Taif University, Taif, Saudi Arabia.
Email:******************
呼唤的近义词
Received April 28th, 2011; revid May 24th, 2011; accepted June 3rd, 2011.
ipad怎么清理内存垃圾ABSTRACT
Professor Syed Ghulam Shabbir (1923-2002), is one of the Pakistani well-known dermatologists. In 1986, Shabbir and his colleagues described a novel autosomal recessive syndrome, which they called laryngoonychocutaneous syndrome. They reported this condition, in 22 patients in 12 families living in
Lahore, Pakistan. This syndrome is characterized by cutaneous erosions, nail dystrophy and exuberant vascular granulation tissue in certain epithelia, especially conjunc-tiva and larynx. This report sheds light on Shabbir and the syndrome that bears his name.
Keywords:Laryngo Onycho Cutaneous Syndrome, Shabbir Syndrome, Genodermatos
佳节又重阳1. Introduction
Professor Syed Ghulam Shabbir (1923-2002) (Figure 1) is one of the Pakistani renowned dermatologists [1,2]. Among his great contributions to dermatology, he is credited for describing, with his colleagues, a syndrome [3], that was later known as Laryngo Onycho Cutaneous Syndrome (LOCS) or Shabbir syndrome [4].
LOCS [5-8] (OMIM 245660) is also known as LOGIC syndrome [5] (Laryngeal and Ocular Granulation in chil-dren from the Indian subContinent).
It is a rare autosomal recessive condition with only a few cas reported worldwide [5].
Figure 1. Professor Syed Ghulam Shabbir (1923-2002).
The syndrome is an epithelial disorder, which is con-fined to the Punjabi Muslim population. It is character-ized by cutaneous erosions, nail dystrophy and exuberant vascular granulation tissue in certain epithelia, especially conjunctiva and larynx .The disorder may result in cor-neal scarring and blindness [4].
The syndrome was mapped [5] to Gene map locus: 18q11.2.
Manifestations appeared during the first months of life and included skin ulceration, recurrent loss of toenails and fingernails, and conjunctival scarring. Other epithe-lial surfaces were later involved. The voice was some-times affected becau of vocal cord thickening and/or nodules; in some children a weak cry was noted at birth. Some of the affected persons had amelogenesis imper-fecta. No impairment of immune function was detected. The main complications, however, occur in the respira-tory tract, where a similar process of erosions and sub-quent formation of granulation tissue caus airway obstruction which may lead to premature death [8]. Patients with Shabbir’s syndrome have minimal blis-tering and extensive granulation formation .The conjunc-tival lesions start in the lateral portion of the eye and re-sult in symblepharon. The conjunctival granulation tissue
often leads to total palpebral occlusion and blindness. Conjunctival granulation tissue is rare in other variants of junctional epidermolysis bullosa (JEB) [2].
LOCS was reclassified as a subtype of JEB [6] bad
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Syed Ghulam Shabbir (1923-2002) and His Syndrome 44
on clinical features with a unique mutation affecting the N terminus of the alpha3 chain of LM332. LOCS is now believed to be a nonblistering variant of JEB [8].
Some studies showed that the laminin alpha3a N-terminal domain (LAMA3gene) is a key regulator of the granulation tissue respon, with important implica-tions not only in LOC but in a range of other clinical conditions associated with abnormal wound healing [4]. The tissue localization of the laminin α3A corresponds to the clinical manifestations of Shabbir’s with LM332 variant. This applies to the skin, nail, and mucous membrane fragility while with LM311 variant, which is prent in the lungs; the patients are also sus-ceptible to pneumonia. Similarly, misn mutations in the tumor suppressor gene encoding p63 protein result in reduced p63 expression in Sh
abbir’s syndrome which might be related to the corneal granulation overgrowth and ocular changes in the patients. Immunofluores-cence mapping reveals type IV collagen in the floor and bullous pemphigoid 180 antigen in the roof of cleavage occurs in the lamina lucida [2].
To date there are no efficacious treatments available for LOCS [8]. The dia is refractory to pharmaco-therapy and often surgical interventions like tracheo-stomy, suprapubic catheterization are required [2]. Vas-cular lar therapy showed encouraging results in laryn-geal lesions in one ca [5]. Thalidomide and amniotic membrane transplantation were successfully ud to re-duce corneal scarring. The majority of patients succumbs to the dia during childhood; nevertheless, in tho who survive the condition remits in the cond decade [2].
Some authors [8] report a 16-year-old girl with LOCS who failed to respond to methylprednisolone and cyclo-phosphamide, but had a partial respon to oral thalido-mide with marked decrea in granulation tissue and tra-cheal cretions. Interruption of treatment resulted in prompt resurgence of the granulation tissue which was again controlled by reintroduction of thalidomide. The authors propod that in the abnce of effective thera-pies for LOCS, a trial of thalidomide in the patients should be considered [8].
Amniotic membrane transplantation with symble-pharon lysis have been performed effectively , for ocular surface reconstruction in the management of epidermoly-sis bullosa and other conditions that cau corneal scar-ring and symblepharon in children, like LOCS. In one ries [7], children with epidermolysis bullosa fared bet-ter and the effects of surgery lasted longer compared with patients with other caus of symblepharon and massive pannus [8]. In that report, only the patient with laryngo- onychocutaneous syndrome had recurrence of granu-loma , at 9 months after surgery [7].
LOCS is first described by Shabbir and his colleagues, in 1986. Shabbir is an eminent Pakistani dermatologist, while working at Mayo Hospital, Lahore; he obrved a new, distinctive, recessively inherited dia which ex-clusively occurred in Muslim children of Punjab Prov-ince of Pakistan. He and his colleagues reported the dis-order, in 22 patients in 12 families living in Lahore, Pakistan.
Professor Shabbir was born in Lahore on 20-02-1923. In 1960, He founded dermatology department at, King Edward Medical College, Mayo hospital, Lahore, Paki-stan [1]. It is the Largest Skin Unit in Pakistan. He was the head of the department from 1960-1987.
Professor Shabbir is one of the founders of dermatol-ogy in Pakistan. He had participated in many assign-ments related to Pakistan Association of Dermatologists and its journal.
He was, also, involved actively, in teaching dermatol-ogy.
He died on 24-08-2002. Currently his son, Professor Atif Hasnain Kazmi is the head of the dermatology de-partment at, King Edward Medical College, Mayo hos-pital, Lahore and the President of Pakistan Association of Dermatologists (PAD).
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