Raafia Ali’s research while affiliated with King Edward Medical University and other places

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Publications (1)


(a, b, c) Dark brown, adherent scales in lamellar pattern. (d) Widening of wrists
(a) Green-stick fracture. (b) Decreased bone density. (c, d) Hyperkeratosis, acanthosis, hypergranulosis, large papillae, blunt rete ridges and supra-papillary perivascular lymphocytic infiltration; HE (100x), (200x).
Lamellar Ichthyosis with Rickets
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April 2013

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630 Reads

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4 Citations

Pakistan Journal of Medical Sciences Online

Raafia Ali

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Lamellar ichthyosis (LI) is a rare genetic disorder with autosomal recessive inheritance. It is equally seen in both sexes and usually manifests at birth. The child presents as a collodion baby. The erythema is minimal or absent; but when present, it is maximum on the face. The scaling is generalized, accentuated on lower extremities and flexural areas. Rickets is a condition in which there is softening of bones leading to fractures and deformities. It is caused by vitamin D deficiency & lack of adequate calcium in diet. Children, 6 to 24 months of age, are at a higher risk due to rapidly growing bones. The association between various types of ichthyoses and rickets is well documented. We report a case of lamellar ichthyosis with rickets in a 14-year-old girl from our part of the world.

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Citations (1)


... ARCI has a broad clinical spectrum with variable severity (Vahlquist et al., 2018). The alteration of the skin barrier is mainly manifested by thick, dark brown, generalized scales accentuated on the lower extremities and flexures, accompanied by scaling and erythema in severe cases, resulting in increased transepidermal water loss (Ali et al., 2013;Vahlquist et al., 2018;Gutiérrez-Cerrajero et al., 2023). Oral involvement (Ramar et al., 2014;Nair and Kodhandram, 2016), hypoacusis (Huang et al., 2014), palmoplantar hyperlinearity, diffuse yellowish palmoplantar keratoderma, ectropion, pruritus, alopecia, digital contractures, subungual hyperkeratosis, onychogryphosis, keratosis pilaris, malformation of the nasal cartilage, severe inflammation with a specific immunologic profile and frequent births as collodion babies have also been described (González-Del Carmen et al., 2020;Vahlquist et al., 2018;Süßmuth et al., 2020;Paller, 2019). ...

Reference:

Advances in the treatment of autosomal recessive congenital ichthyosis, a look towards the repositioning of drugs
Lamellar Ichthyosis with Rickets

Pakistan Journal of Medical Sciences Online