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Biomedical subjects

Daifullah Al Aboud

Publications and source records attributed to Daifullah Al Aboud.

16 recordsLinked to original sources

Dermatological aspects of cerebrovascular diseases.

Neurological symptoms are sometimes triggered by the same mechanisms as are skin manifestations. They include genetic conditions like the epidermal nevus syndrome, the Sneddon syndrome, Fabry disease and others, as well as certain inflammatory disorders like erythematous lupus, Bechet disease. Basically all conditions giving rise to anticoagulation processes may cause simultaneously neurological and cutaneous manifestations. Cerebrovascular stroke is the third most common condition of death in the developed world after cancer and ischemic heart disease. The mechanisms responsible for development of skin manifestations in patients afflicted by stroke are shortly reviewed. Stroke may also influence the already existent skin diseases.

Diagnosis, Differential↗

Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome.

Kindler syndrome is an autosomal recessive disorder characterized by neonatal blistering, sun sensitivity, atrophy, abnormal pigmentation, and fragility of the skin. Linkage and homozygosity analysis in an isolated Panamanian cohort and in additional inbred families mapped the gene to 20p12.3. Loss-of-function mutations were identified in the FLJ20116 gene (renamed "KIND1" [encoding kindlin-1]). Kindlin-1 is a human homolog of the Caenorhabditis elegans protein UNC-112, a membrane-associated structural/signaling protein that has been implicated in linking the actin cytoskeleton to the extracellular matrix (ECM). Thus, Kindler syndrome is, to our knowledge, the first skin fragility disorder caused by a defect in actin-ECM linkage, rather than keratin-ECM linkage.

Abnormalities, Multiple↗

Linear angioma serpiginosum.

Angioma serpiginosum distributed in a linear fashion along the upper extremity of an adolescent boy is described. Histopathologic examination revealed the characteristic numerous thick-walled capillaries in the dermal papillae.

Adolescent↗

Cutaneous signs.

Cutaneous signs play a significant role in clinical medicine. Signs have often been named after the initial observer. They may indicate either dermatologic or systemic illness and aid the examiner in diagnosis and relevant investigations. Some are specific, some have been described in other conditions, and few have lost their relevance. Most of the signs are related to the pathogenesis of the disease but the cause of some is not clear.

Dermatology↗

Pigmentary mosaicism of hyperpigmented type in two sisters.

A 17-year-old girl and her 15-year-old sister presented with progressively increasing streaks of reticulate hyperpigmented macules arranged in a whorled pattern over the trunk and extremities (Figure), which appeared soon after birth. The face, palms, soles, eyes, and mucous membranes were spared. Both parents were unrelated Saudis. There was no history of any preceding eruption or any associated systemic abnormality, except for recurrent oral ulcers in both patients for several years. The younger one also had one episode of genital ulcers. Dermatological examination of both parents and the patients' three brothers and one sister were normal with no history of oral ulceration. Examination revealed few aphthous ulcers in either cases, but no joint or eye symptoms. Pathergy testing in both cases was negative. Ophthalmological examination and consultation revealed no signs of Behcet's disease. Routine blood tests did not show any abnormalities. Skin biopsies were taken from pigmented and normal skin in both patients. Histopathological examination of pigmented skin in both cases revealed basal cell hyperpigmentation with pigmentary incontinence. Similar features but in milder form were seen in the biopsies of normal skin in both cases.

Adolescent↗

Lamellar ichthyosis in a Saudi kindred.

A series of 20 patients aged 4-16 years presented with lamellar ichthyosis at the dermatology unit of King Faisal Hospital at Taif in western Saudi Arabia. Though they had come from different families, they all belonged to the same tribe that was confined to a rural area in the precincts of Taif. The tribe is known for consanguineous marriages. The affected children are from 5 sibships. All the children presented with generalized thick dark scales. The history revealed that they all were born with a thick membrane around them, which was shed soon after. Gradually over months and years there was development of generalized scaling. A prototype is shown in the Figure. The scales had become darker and thicker with the passage of time. There was no pruritus. Teeth and mucous membranes were normal. None of the patients had erythroderma. The associated findings in some of the children were ectropion and alopecia. Contractures including pseudoainhum were also observed in some children. None of the patients' parents was found to be affected with a similar condition. There was no improvement with age. Skin biopsies from several of the patients revealed only hyperkeratosis. All had to be managed with topical emollients since they could not afford oral retinoids.

Adolescent↗