Table 1 Diverse clinical features of autosomal dominant and X linked recessive cutis laxa (ADCL and XRCL) associated with each gene (
From: New insight into clinical heterogeneity and inheritance diversity of FBLN5-related cutis laxa
Inheritance | ADCL | XRCL | ||
|---|---|---|---|---|
Phenotypes | MIM 123700 | MIM 614434 | MIM 616603 | MIM 304150 |
Genes | ELN | FBLN5 | ALDH18A1 | ATP7A |
SKIN | Loose redundant skin Skin lacks elastic recoil Excessive skin folds No skin hyperelasticity Normal wound healing Skin Histology; Sparse, fragmented elastic fibers | Redundant skin (present at birth, improves over time) Skin folds (present on abdomen and arms) Hyperextensible skin Wrinkled skin (present on backs of hands and wrists) | Thin, translucent skin Lax skin Wrinkled skin | Soft skin Mildly extensible skin Loose, redundant skin Easy bruisability Coarse hair |
CARDIOVASCULAR | Mitral valve regurgitation Aortic valve regurgitation | Mitral valve regurgitation | Thin, translucent aortic valve (rare) Aortic insufficiency (rare | Orthostatic hypotension Elongated, tortuous carotid arteries Intracranial arterial narrowing |
RESPIRATORY | Emphysema | Â | Â | Â |
HEAD | Premature aged appearance | Â | Microcephaly Triangular face Prominent forehead Broad forehead Prominent ears Low-set ears Congenital cataracts Corneal clouding Strabismus (in some patients) | -Persistent, open anterior fontanel Long, thin face High forehead Long philtrum Hooked nose High-arched palate Long neck |
GENITOURINARY | External Genitalia (Male); Inguinal hernia | Â | Unilateral renal agenesis (rare) | Hydronephrosis Ureteral obstruction Bladder diverticula Bladder rupture Bladder carcinoma |
MISCELLANEOUS | Genetic heterogeneity Onset of skin manifestations from birth to puberty | One African American female has been described Cutaneous manifestations significantly improved over the first decade of life | Â | Â |
SKELETAL | Â | Scoliosis | Osteopenia (in some patients) Delayed closure of fontanels Wormian bones (in some patients) Abnormal spine curvature (in some patients) Hip dislocation Joint hyperlaxity Adducted thumbs Clenched fingers Clubfoot (in some patients) Pes calcaneovalgus (rare) | Joint laxity Osteoporosis Occipital horn exostoses Kyphosis Mild platyspondyly Coxa valga Pelvic exostoses Short humeri Genu valgum Limited elbow extension Limited knee extension Capitate-hamate fusion Pes planus |
ABDOMEN | Â | Extensive folding and redundant skin (present at birth) | Hernias Feeding difficulties | Chronic diarrhea Hiatal hernia |
NEUROLOGIC | Â | Â | Psychomotor retardation Hypotonia Brisk reflexes Cranial vessel tortuosity Foramen magnum stenosis (in some patients) Autism spectrum disorder (rare) | Low-normal IQ |
Other | Â | Â | Prenatal and postnatal growth retardation | Narrow shoulders Narrow chest Short, broad clavicles Pectus excavatum Pectus carinatum Short, broad ribs |