Another case report described a patient without celiac disease who had refractory acrofacial
vitiligo, which improved after the adoption of a gluten-free diet.
Generalized vitiligo involves more than one region of the body and can be further sub classified into acrofacial
, vulgaris, universal and mixed type's2,4.
NSV typically evolves over time, in both distribution and extension patterns, including acrofacial
, generalized, mucosal, and facial vitiligo [Figure 1]a and [Figure 1]b.
Moving onto generalized manifestations, it may be acrofacial
(presence of typical lesions on the distal extremities and face), vulgaris (achromic maculae of random distribution) or mixed (acrofacial
and vulgaris) (12-15).
The factors responsible for unsatisfactory outcome of medical therapeutic regimens include long duration, acrofacial
and segmental vitiligo, poor compliance and the occurrence of adverse effects.
Based on the clinical features (short stature, polydactyly, and orofacial abnormalities), the differential diagnoses of the McKusick Kauffman syndrome, Jeune dystrophy, and Weyers acrofacial
dysostosis can be considered.
* Mixed: various combinations of segmental, acrofacial
, mucosal (more than one mucosal site), generalised, universal, mixed (associated with segmental vitiligo) and rare variants.
Clinical assessment of the patients revealed that 32 patients (80%) had generalized vitiligo, seven (17.5%) had acrofacial
vitiligo, and only one (2.5%) had focal vitiligo.
Inmajority of these syndromes cardiac renal skeletalocular and hematological organs are involved.1Mutations in various genes like FANCE SF3B4WNT7A and ATR have been implicated in Fanconianemia acrofacial
dysostosis-1 fibular aplasia withpoly-syn-oligodactyly and Seckel syndrome-1respectively suggesting their likely role in thumbpathomorphogenesis.1Data on limb dysmorphology are scarce for thePakistani patients.78 Here we report on six differentcases with thumb agenesis presented as a limb-specific phenotype.
The differential diagnosis includes acrofacial
dysostosis, oculoauriculovertebral spectrum and X-linked dominant maxillofacial dysostosis.
It is usually associated with autoimmune thyroid disease and acrofacial
vitiligo in females is the predominant type encountered.4