Editorial: Shabbir s syndrome: the elucidated nosological status

Professor Syed Ghulam Shabbir (1923-2002), an eminent Pakistani dermatologist, while working at Mayo Hospital, Lahore, observed a new, distinctive, recessively inherited disease which exclusively occurred in Muslim children of Punjab Province of Pakistan. For the first time in 1986, Shabbir et al} published a series of 22 children in 12 Punjabi families, who presented with chronic ulcers over the skin with involvement of nails and larynx. The disease usually started within 2 weeks after birth. The presenting complaints were hoarseness, dystrophic changes in the nails, chronic bleeding, and crusted lesions of the periorificial skin of the face. In addition, the teeth were deformed. The ulcers did not respond to any drugs, including antibiotics, antituberculous therapy, corticosteroids, and dapsone. Shabbir et al} named this disorder The Laryngo-Onycho- Cutaneous (LOC) syndrome (LOCS). However, this entity was not known to dermatologists of the Western hemisphere until Ainsworth et al.2 from Glasgow, Scotland, reported laryngeal and ocular granulation tissue formation in two children of Punjabi descent who had similar features affecting their skin, nails and teeth. In 1992, this disease was published as Shabbir s syndrome in the 5th edition of Rook s Textbook of Dermatology, oneAddress for correspondenceDr. Jameel Ahmad Shaheen, Associate Professor of Dermatology, Department of Dermatology, Quaid-e-Azam Medical College / Bahawal-Victoria, Bahawalpur Email: drshaheenjg@yahoo.comof the most widely used reference books available on the subject.3 However, the nosological status of the disease was still not clear because of lack of ultrastructural and genetic findings