Table 1. Clinical characteristics of the patients.

Patient	D1	D2	S	C	H
Mutation
Microdeletion 15q26.3	+	+	+	+	−
Splice Site Mutation CERS3	−	−	−	−	+
Age in Years/Sex	37/m	22/m	14/m	11/m	30/f
Skin Symptoms
Collodion baby at birth	+	+	+	+	+
Face
Erythema and fine scales	+	+	+	+	+
Trunk
Erythema	+	+	+	+	+
Scales	fine white	large brown	fine white	fine	fine
Lower Limbs
Erythema	+	+	+	+	+
Scales	large brown	large brown	large brown	large	large brown
Hyperlinearity of palms	+	+	+	+	+ (and soles)
Hyperkeratosis (moderate)	+	+	+	+	+
Premature aging aspect of back of hands	+	+	+	+	+
Multiple nevi	−	−	face, trunk, limbs	+	+
Additional Symptoms
Short Stature in m	1.65	1.63	1.50	1.33	1.49
Brachydactyly	+	+	+	−	−
Joint stiffness	+	−	+	−	−
Eye Symptoms
Acuity (R//L)	−	3∶10/4∶10	−	−	−
Microspherophakia	bilateral	bilateral	bilateral	bilateral	−
Myopia (R/L)	−	−9/−3,75	−6/−6	−8/−7,25	−
Cataract	+	−	−	−	−
Retinal detachment	+ (left eye)	−	Amblyopia	−	−
Glaucoma	+	−	−	−	−
Heart
Tachycardia	+	−	−	−	−
Mitral valve dysplasia	+	+	−	+	−
Cardiomyopathy (dilated)	+	−	−	−	−