HAIR DEPIGMENTATION AND DERMATITIS – AN
UNEXPECTED PRESENTATION OF CYSTIC FIBROSIS
Milankov O1,2,*, Savic R2, Tosic J2
*Corresponding Author: Professor Olgica Milankov, Novi Sad Medical Faculty, University of Novi Sad, Serbia;
Institute of Child and Youth Healthcare of Vojvodina, Pediatric Clinic, Hajduk Veljkova 10, 21000 Novi Sad,
Serbia; Tel.: +381641376735; Fax: +38121500433; E-mail: olgicamilankov@ gmail.com
page: 81
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INTRODUCTION
Cystic fibrosis (CF) is an autosomal recessive
disease, caused by defects in the cystic fibrosis transmembrane
conductance regulator (CFTR) gene that
result in multi-organ dysfunction. It is the most common
life-limiting genetic condition in the Caucasian
race, with an incidence of 1:1353 to 1:4700 in Europe
(1). Before the era of newborn screening for CF, patients
were mostly diagnosed from repeated respiratory
infections, failure to thrive, gastrointestinal
symptoms, and high concentration of sweat chloride,
which are the most common clinical presentations of
CF. Protein-energy malnutrition (with anemia, hypoproteinemia
and edema) is seen in 5.0 to 13.0% of
infants with CF, or in up to 33.0% (2,3). Skin involvement
such as dermatitis is rare, and has been associated
with deficiencies of dietary zinc, protein, and
essential fatty acids (4,5). Graying of hair is very rare
presentation of CF, with only three cases described in
the literature (4,6,7).
Case Report. A 3.5-month-old female was admitted
to our department for aspiration pneumonia.
She was born at term, the second surviving child of
unrelated Serbian parents, with satisfactory social
status. Another pregnancy had ended with the fetus
dying in utero after 8 months, while a surviving sibling
was healthy. During the pregnancy, the mother was
on a low-molecule heparin therapy, due to congenital
thrombophilia, and was anemic. There was a family
history of atopy. At birth, the child had a body weight
of 3.91 kg, length 51 cm. She was fed a mixed diet of
breast milk and milk formula. Growth in body weight
was 0.81 kg. Stools were fatty, smelly, abundant.
Because of anemia she received a blood transfusion
when she was 1-month-old, and has been receiving
iron therapy ever since. Eczematous dermatitis on the
lower extremities appeared at 2 months of age, and
was treated with neutral cream. Seven days before the
admission, she had an episode of choking after feeding
and followed by an intensive and persistent cough.
On admission to hospital she was alert, hypotonic,
with rectal temperature of 38°C, respiratory
rate 50/min., pulse rate 110/min. Body weight 4720 g
(10th centile), body length 53 cm (10th centile). Hair and eye lashes were depigmented in the proximal parts
(Figure 1). Hyperpig-mentation of skin, with laminar
peeling and red borders, was present on face and lower
extremities. Skin of inguinal and popliteal regions was
red and desquamated (Figure 2). There was a serous
secretion in nose and thrush in the mouth cavity. Liver
was palpable 2.5 cm under the right costal arch but
the spleen was not palpable. There was an edema of
the lower legs.
Laboratory tests revealed elevated sedimentation
rate (20 mm/hour), and elevated C-reactive protein (12
mg/L). Leucocytes 9.08 × 109/L (52.0% neutrophils,
48.0% lymphocytes), platelets 265 × 109/L. She had
normocytic anemia (Hb 7.1 g/dL) and hypoalbuminemia
(18.6 g/L). Transaminases were slightly elevated
[aspartame amino-transferase (AST) 1.20 mkat/L (normal
0.27-1.01), alanine aminotransferase (ALT) 1.41
mkat/L (normal 0.20-0.80)]. Gamma glutamyl transferase
(GGT) 5.05 mkat/L (normal 0.22-2.05). Total immunoglobulin
E (IgE) 103.6 IU/mL (normal 0.0-24.0). Fat
droplets were present in the stool. Chest X-ray showed
right-sided pneumonia. Esophageal radiography revealed
gastroesophageal reflux. Two consecutive sweat
tests showed chloride concentration of 99.0 mmol/L,
87.0 mmol/L (normal 0.0-40.0), and the patient was
diagnosed with CF. Genetic analysis was performed at
the Institute of Molecular Genetics and Genetic Engineering
in Belgrade, Serbia. The CFTR gene showed
a d-F508 mutation in the homozygous state.
Treatment included parenteral antibiotic and
anti-gastroesophageal reflux therapy. After initiation
of pancreatic enzymes and vitamin supplementation
therapy, skin changes gradually disappeared, and her
hair regained its normal brown color.
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