Balkan Journal of Medical Genetics

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

DISCUSSION

Dermatitis as a presenting symptom of CF seems rare and has been previously reported in 24 other patients (5). However, the incidence of this presentation of CF is likely higher because of unreported cases. The pathophysiology of the cutaneous symptoms of CF is unclear but it is thought that lack of protein, zinc and essential fatty acids (especially linolenic acid) play a role (8,10-12). The hypo-proteinemia, zinc and essential fatty acid deficiency are due to malabsorbtion in CF and secondary to pancreatic failure. The rash typically appears in infancy, from age 2 weeks to 15 months. The eruption usually begins in the diaper area, has a predilection for the perioral area and the extremities, and can extend to cover the entire body. The initial eruption consists of erythematous, scaly papules and progresses within 1-3 months to extensive, desquamating plaques (5,7,8,12). Vesicles, bullae and pustules can also occur. In our patient, the rash appeared at 2 months of age as an eczematous dermatitis on the lower extremities. Because of the history of atopy in our patient’s family, her rash was diagnosed as atopic dermatitis and treated with H1- receptor antagonists, neutral cream and hypoallergenic infant formula. Despite the therapy, skin lesions extended on to the face, arms and trunk and desquamating plaques in the inguinal and popliteal regions. Regarding hair depigmentation as a presenting symptom of CF, the hair of patients in two reviewed cases (6,7) was completely gray. In a third case (4), there was hypo-pigmentation of the proximal 1 cm of scalp hair as in our patient, together with the depigmentation of the eye lashes at the proximal parts. The hypopigmentation of hair probably results from a combination of nutritional deficiencies. It has been shown that lack of the amino acid tyrosine and coenzymes required for the synthesis of pigments in the hair and skin, result in changes in the hair color and hyper-pigmentation of skin in protein-energymalnourished children (9). Elements of the rash observed in CF resembled the skin lesions found in protein-calorie malnutrition, essential fatty acid deficiency, and acrodermatitis enteropathica (AE), an autosomal recessive defect causing primary zinc deficiency. Severe protein malnutrition can lead to skin changes consisting of erythematous plaques, desquamation, stomatitis, glossitis, thinning nails and alopecia. Deficiency in fatty acid, especially linoleic, is associated with periorificial cutaneous eruptions consisting of dry, thickened, erythematous and desquamating plaques (12). In the reviewed literature (4-8,10,11), all patients had normal mucous membranes and nails, like our case, contrary to what is seen in AE patients. The differential diagnosis of this type of rash beside AE, protein-energy malnutrition, biotinidase deficiency, also includes psoriasis, seborrheic dermatitis, atopic dermatitis, Langerhans cell histiocytosis, epidermolysis bullosa and immunodeficiency syndromes such as Wiscott- Aldrich syndrome, Netherton’s syndrome and severe combined immunodeficiency (4-8,10-12). Declaration of interest: The authors report no conﬂicts of interest. The authors alone are responsible for the content and writing of this paper.

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