Incontinentia pigmenti (IP) is an X-linked dominant genodermatosis characterized by typical skin lesions along Blaschko's lines and associated with ocular, dental, nails, hair, skeletal, central nervous system and cardiovascular anomalies. We report a 5-year-old boy with cutaneous hyperpigmentation along Blaschko's lines, atrophic streaks, strabismus and mental retardation. He showed the charac...

Lipoid proteinosis (LP) is a rare autosomal recessive genodermatosis characterized by the accumulation of an amorphous hyaline material in various regions body, including skin, mucous membranes, brain, internal organs. LP caused mutations gene encoding extracellular matrix protein 1 (ECM1) found on chromosome 1q21. Although this disease rare, it more reported areas where consanguineous marriage...

BACKGROUND The extracellular matrix protein 1 (ECM1) is a glycoprotein, expressed in skin and other tissues. Loss-of-function mutation in ECM1 causes a rare autosomal recessive disorder called lipoid proteinosis. Lipoid proteinosis is presented by varying degrees of skin scars, beaded papules along the eyelid margins, variable signs of hoarseness of voice and respiratory disorders. More than 25...

Kindler syndrome (KS) is a rare autosomal recessive genodermatosis. We report two cases of KS with classical clinical presentations involving skin and mucus membranes. Clinically, both patients had four major features of KS in the form of acral skin blistering, photosensitivity, progressive poikiloderma, and diffuse cutaneous atrophy. Case 1 had associated features in the form of urethral...

The speaker divided his lecture into three parts: 1) The blistering baby, 2) The red and scaly baby, 3) The baby with suspected genodermatoses. 1. The blistering baby. The case presented was a two-day-old baby with epidermolysis bul losa presenting with bl is ters and erosions s ince day 1 of l i fe. In the management of newborns with blistering disorders, other differential diagnoses e.g. suck...

La enfermedad de Hailey-Hailey, también llamada pénfigo familiar benigno, corresponde a una genodermatosis debilitante que se transmite mediante un patrón autosómico dominante, con prevalencia alrededor 1 en 50.000 casos. El reporte antecedentes familiares está presente hasta 60 % los pacientes. Se caracteriza por la presencia vesículas crónicas y recurrentes, erosiones exulceraciones zonas fle...

La epidermólisis ampollar es una familia de genodermatosis baja prevalencia. Se caracteriza por la elevada fragilidad mecánica los tejidos afectados, que da lugar a ampollas mucocutáneas, erosiones y ulceraciones difícil tratamiento.El amplio espectro fenotípico enfermedad va desde un compromisoleve con afectación exclusivamente cutáneahasta fenotipos más severos, en pueden afectarse tanto piel...