Panel a contains three photos
showing the physical condition of a patient. The first photo depicts both
ears with visible erosion and scarring. The second photo shows the
patient's hands with tapering fingers and signs of perniosis. The third
photo displays the patient's feet with erosion and autoamputation of
several toes. Panel b includes two line graphs tracking the growth of the
patient from ages 9.6 to 13.2 years. The top graph shows the patient's
stature in centimeters on the y-axis and age in years on the x-axis, with
percentiles from the Centre for Disease Control depicted by a grey shaded
area. The bottom graph shows the patient's weight in kilograms on the
y-axis and age in years on the x-axis, with the same percentile shading. The
commencement of recombinant human growth hormone treatment is indicated by a
violet line. Panel c is a family pedigree diagram showing the genetic
relationship and potential consanguinity of the patient. Filled symbols
represent individuals with an FCL-like disease phenotype, while open symbols
represent individuals with a normal phenotype. The patient is indicated by a
pink arrow. Uncertain consaguinuity between the patient's grandfathers
is indicated by a dashed teal line.
The proband presented with symptoms consistent with FCL. (a) Photographs of the proband depicting violaceous papules and erosion of acral tissues prior to treatment. Erosion and scarring of both ears, perniosis and tapering of the fingers, and perniosis and erosion of the toes are shown. (b) Growth charts tracking stature (top) or weight (bottom) of the proband (pink line) from 9.6 to 13.2 years old. Commencement of recombinant human growth hormone (hGH) (violet line) is indicated. Percentiles from the Centre for Disease Control are depicted by the grey shaded area. (c) Pedigree of the patient presenting FCL-like disease (indicated by pink arrow) and potential fourth-degree consanguinity as reported by the family. Filled and open symbols represent an FCL-like or normal phenotype, respectively.