The relationship of this dermal change to the epidermal abnormalities is not clear.
Humans with null mutations in EDA have defects in multiple ectoderm and neural crest derived tissues, including sparse hair, absent sweat glands, dental abnormalities, and dermal bone changes in the skull (Mikkola and Thesleff, 2003; Cui and Schlessinger, 2006; Yavuz et al., 2006; Clauss et al., 2008; Lesot et al., 2009).
Embryonic chick epidermis, if cultured for 4 days on a TH millipore filter overlying certain malignant dermal fibroblasts, shows abnormalities ranging from complete degeneration to hypertrophy and abnormal differentiation.
This leads to accelerated aging and shortened life span due to growth impairment, lipodystrophy, dermal and bone abnormalities, and cardiovascular alterations.
Ltbp4−/− mice grew significantly slower than their WT littermates, developed dermal and cardiopulmonary abnormalities and died within 2 weeks after birth, most likely due to respiratory failure caused by extensive pulmonary emphysema similar to that observed in ARCL1C patients (Table 2) (Callewaert et al., 2013; Urban et al., 2009).
Both conditions have been reported to show abnormalities in dermal blood vessels but these changes have not been fully assessed.
The cat cry, which typically diminishes with age, is accompanied, to varying degrees, by symptoms of intellectual disability, mild facial abnormalities, anomalies of dermal ridge patterns (fingerprints, palm prints, and footprints), heart malformations, a small head (microencephaly), an excessive space between the eyes (ocular hypertelorism), and a failure to thrive.
In the present study, we investigated for the first time the possible contribution of dermal microvascular ECs to fibrillin deposition abnormalities in SSc.
In case 1, dermal and respiratory symptoms and pulmonary function abnormalities recurred upon return to the same work environment; in case 2, the worker was reassigned away from the furnace area and did not have a recurrence of acute symptoms.
Although these dysmorphic features of nuclear senescence, commonly seen in aging cells [ 26], could also be observed in the control fibroblasts with immunofluorescence analysis, they occurred in lower frequency (3.6 ± 3.6%, vs. 18.0 ± 1.8%, P<0.05) with less-severe morphological abnormalities in comparison with LMNAR225X/WT dermal fibroblasts.
