Piebaldism: about an Observation and Review of the Literature-Juniper Publishers
Authored
by Tshilombo JM
Abstract
The authors describe a case of piebaldism in a child
of 1 year and a half and make a brief review of the literature.
Piebaldism is a rare and benign condition. His diagnosis is clinical,
after elimination of other differential diagnoses.
Keywords: Piebaldism; Depigmentation; Skin; Hair; Hypomelanosis
Introduction
The presence of localized hypomelanosis of the skin
and hair in a newborn should lead the clinician to evoke a rare genetic
disease such as piebaldism. We report here a case of piebaldism observed
at the University Clinics of Kinshasa and address, through a review of
the literature, its epidemiological, clinical and therapeutic aspects.
Observation
IM, 1½ years old, is the result of a
non-consanguineous marriage. She is born to term and has a psychomotor
development normal for her age. This child was followed since birth for
multiple hypopigmented lesions. The heteroanamnesis reveals the presence
of the same abnormalities in his great-
grandmother, without association with other pathologies. At the clinical
examination, it was a child in good condition with hypopigmented
tablecloths of interest to the lower limbs dotted with normally
pigmented skin. In addition, the child also had hypopigmented triangular
hair involvement in the mid-front scalp. ENT, ophthalmic and
cardiovascular examinations were normal. On all of these clinical data,
the diagnosis of piebaldism was retained.
Protection advice for hypopigmented areas of the
skin as well as the application of a cream with sunscreen have been
prescribed to avoid complications (Figure 1).
Discussion
Piebaldism has been described for a long time
throughout history with early writings by Egyptians, Greeks and Romans
[1,2]. It is a pigmentation disorder of genetic origin with autosomal
dominant inheritance [3]. It is a mild, rare disease whose incidence is
estimated at less than 1/20000 live births
[4,5]. This pigment anomaly results from a mutation in the
proto-oncogene KIT at chromosome 4, or in the gene SLUG at chromosome 8;
these mutations are responsible for a lack of migration and
differentiation of melanoblasts during embryogenesis [6-8].
Clinically, this syndrome is manifested by the
presence, at birth, depigmented spots that may interest the face, chest,
abdomen, extremities. These spots are stable and persistent with
distribution symmetry [9]. A lock of white hair, often triangular in
shape, is present on the front of the scalp, sometimes with the
underlying forehead [10]. In 80 to 90% of cases, this frontal white lock
may be the only clinical manifestation [2,11]. Eyelashes and eyebrows
can also be achieved. Typically, additional
hyperpigmented macules can develop in the white plaques [9].
Diagnosis of piebaldism is clinical after elimination of other
differential diagnoses. The main differential diagnoses are
albinism, Waardenburg syndrome, tuberous sclerosis, vitiligo,
Vogt-Koyanagi-Harada syndrome, Alezzandrini syndrome,
alopecia areata and sarcoidosis [4]. Rare cases of association
of piebaldism with other diseases, such as Hirschprung’s
disease, neurofibromatosis type 1, Blackfan-Diamond anemia,
glycogenosis type 1a have been described in the literature [4-
5,12].
From a therapeutic point of view, areas of skin depigmented
in piebaldism are generally insensitive to drug treatments and
phototherapy [4], but it is important to protect them from
sunstrokes by using protective creams to avoid a transformation.
malignant [11]. Transplantation of the skin with the aid of the
technique of mini-grafting, effective in 80% of cases, would
currently be the best alternative [5].
Conclusion
Piebaldism is a mild illness but can have psycho-social
repercussions. Therapeutic research is underway, including
genetic therapy to improve the quality of life of patients.
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