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Biomedical subjects

Khalid Al Hawsawi

Publications and source records attributed to Khalid Al Hawsawi.

At least 19 recordsLinked to original sources
PubMed2003

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↗
PubMed2003

Kindler syndrome: two additional features.

Kindler syndrome is a hereditary condition that combines the features of blistering and photosensitivity in infancy and early childhood with progressive poikiloderma. We report additional features observed in one affected individual.

Adult↗
PubMed2003

Fixed drug eruption to ibuprofen in daughter and father.

Fixed drug eruption (FDE) is a common cutaneous reaction which may be seen in reaction to several medications. The usual etiologic agents associated with FDE are phenazones, sulfonamides, and tetracyclines. Often the causative agent is made out from the patients history; in some cases, oral challenge or topical testing may be required. The pathophysiology of FDE is unclear. Cell-mediated, rather than humoral immunity is thought to be involved. Herein we report a case of FDE in a daughter and father.

Adolescent↗
PubMed2002

Two brothers with keratosis follicularis spinulosa decalvans.

Keratosis follicularis spinulosa decalvans is a rare, X-linked disorder affecting both the skin and eyes. There are few reports about this entity. The aim of this report is to describe 2 brothers with progressive scarring alopecia of the scalp, hypotrichosis with follicular prominence of the eyelashes, and extensive keratosis pilaris. The second patient has Down syndrome with palmoplantar keratoderma and partial alopecia of the eyebrows. We also reviewed the literature about this uncommon entity.

Adolescent↗
PubMedDate not supplied

Ichthyosis follicularis: a case report and review of the literature.

Ichthyosis follicularis (IF) is a very rare neurocutaneous, X-linked recessive condition affecting the skin, hair, eyes, and central nervous system (CNS). This report describes a child with facial dysmorphism, mental retardation, psychomotor delay, congenital alopecia of the scalp, eyebrows, and eyelashes, and extensive spiny follicular papules. A skin biopsy specimen showed the characteristic absence of sebaceous glands. We also reviewed the literature on this very rare entity. Additional findings observed in our patient, including hepatosplenomegaly, undescended testicles, and ptosis, have not been reported before.

Abnormalities, Multiple↗
PubMedDate not supplied

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↗
PubMedDate not supplied

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↗