Cutis laxa: a review.

Cutis laxa is a rare disorder of elastic tissue resulting in loose, redundant, hypoelastic skin. Both acquired and inherited forms exist, some of which have significant systemic manifestations. Here, we review the various forms of cutis laxa, with focus on the inherited forms. Recent molecular studies have provided many new insights into the causes of cutis laxa and revealed greater genetic heterogeneity than previously appreciated.

Prevalence of floppy eyelid syndrome in obstructive sleep apnea-hypopnea syndrome.

OBJECTIVES: To determine the prevalence of floppy eyelid syndrome (FES) in obstructive sleep apnea-hypopnea syndrome (OSAHS) and to develop a method to measure eyelid laxity. DESIGN: Masked cross-sectional (prevalence) study examining patients referred to the Mayo Sleep Disorders Center. PARTICIPANTS AND/OR CONTROLS: Fifty-nine subjects were examined before undergoing polysomnography. Forty-four subjects had OSAHS, and 15 did not have it. TESTING: Subjects underwent slit-lamp examination and eyelid laxity measurements, followed by polysomnography. MAIN OUTCOME MEASURES: Presence of FES as defined by subjectively easy eyelid eversion, tarsal papillary conjunctivitis, and lash ptosis; force required to displace the upper lid 5 mm, as measured by a strain gauge device; number of apnea or hypopnea episodes per hour (apnea-hypopnea index [AHI]); presence of OSAHS, as defined by an AHI of > or =5; and abnormalities on electrocardiography. RESULTS: One patient with OSAHS was found to have FES, yielding a prevalence of 2.3% (95% confidence interval [CI]: 0.1%-12.0%). One patient was referred to the Sleep Disorders Center due to a diagnosis of FES; if this patient were included, the prevalence would be 4.5% (95% CI: 0.5%-15.1%). Subjectively easy lid eversion was more common in OSAHS patients than in non-OSAHS patients. When adjusted for age and body mass index, there was a trend for association between subjectively easy lid eversion and OSAHS, but this did not reach statistical significance. Subjectively easy lid eversion was associated with AHI. Force required to displace the upper lid 5 mm was lower in lids with subjectively easy eversion, but was not associated with OSAHS or AHI. Intraclass correlation among 3 strain gauge measurements was good for both right (82%) and left (83%) lids. There were no statistically significant differences in frequency of electrocardiographic abnormalities among the various groups. CONCLUSIONS: The prevalence of FES among OSAHS patients is low. Patients with subjectively easy upper lid eversion are at risk for OSAHS. By recognizing the potential for OSAHS in these patients, the ophthalmologist may play an important role in initiating their evaluation and treatment.

Cutis laxa in Kabuki make-up syndrome.

Kabuki make-up syndrome (KMS; OMIM#147920) is a multiple congenital anomalies/mental retardation syndrome of unknown cause, first described independently by Niikawa and Kuroki. It is characterized by a peculiar facial appearance, mild to moderate mental retardation, skeletal abnormality, joint laxity, short stature, and unusual dermatoglyphic patterns. Several additional malformations (eg, cleft palate), cardiovascular defects, genitourinary and gastrointestinal tract anomalies, otologic and ophthalmologic abnormalities, and recurrent infections are also frequently present. It is mostly sporadic, although some familial cases have been reported. Inheritance is thought to be autosomal dominant or X-linked recessive; several chromosomal abnormalities have been found, but none of them seems to be specific to KMS. The fact that the majority of patients are sporadic and show a wide spectrum of clinical features rules out the hypothesis that KMS is a condition with a microdeletion involving several contiguous genes. We recently observed an Italian boy with typical KMS associated with cutis laxa, which, to our knowledge, is an uncommon finding in KMS, never reported in more than 350 KMS cases previously described in the literature.

Selected disorders of connective tissue: pseudoxanthoma elasticum, cutis laxa, and lipoid proteinosis.

There has been progress made in the understanding of 3 Mendelian disorders: pseudoxanthoma elasticum, cutis laxa, and lipoid proteinosis cutis and mucosae. While they are primary connective tissue diseases, their names imply a connection to the skin, and in fact, it is often the dermatologist who makes the diagnosis. It seems rational that defects in various extracellular matrix proteins cause lipoid proteinosis or subtypes of cutis laxa, yet the discovery of a liver- and kidney-based transmembrane transporter as the culprit of pseudoxanthoma elasticum was rather surprising and may shed new light on elastic tissue homeostasis.

Xantogranulomatosis subcutánea elastolítica (piel laxa xantogranulomatosa) / Elastolytic subcutaneous xanthogranulomatosis (xanthogranulomatous slack skin)

La xantogranulomatosis subcutánea es una peculiar xantomatosis que probablemente corresponde a una variante muy xantomatizada y con elementos múltiples del xantogranuloma juvenil subcutáneo. Los individuos afectados presentan múltiples nódulos subcutáneos de consistencia firme y localización preferente en el tronco. Los nódulos corresponden a masas xantomatosas subcutáneas que no se acompañan de xantomas cutáneos. Desde el punto de vista histológico se trata de cúmulos celulares bien circunscritos, localizados en dermis profunda e hipodermis y compuestos por una mezcla de células xantomatosas y células gigantes de tipo cuerpo extraño y de tipo Touton. Los estudios analíticos de los lípidos séricos resultan normales. Un varón de 52 años consultó porque a lo largo de los últimos años toda la piel de la espalda y zona superior del tórax había ido adquiriendo un aspecto irregular, laxo y plegado. En estas zonas presentaba múltiples lesiones nodulares subcutáneas, de consistencia firme. Microscópicamente los nódulos estaban constituidos por una población predominante de células xantomatosas y algunas células gigantes multinucleadas. En el interior del citoplasma de muchas de las células gigantes se observó la presencia de cuerpos asteroides. Además presentaba xantomas en las conjuntivas bulbares y un intenso linfedema en ambas piernas. Consideramos que este caso es un ejemplo más de la denominada xantogranulomatosis subcutánea con dos peculiaridades clínicas: el hallazgo de piel laxa en las zonas afectadas y la asociación con linfedema y elefantiasis cutánea en miembros inferiores. Por otra parte hemos reseñado el peculiar hallazgo histológico de cuerpos asteroides en el interior de las células gigantes del infiltrado xantomatoso (AU)