Familial case of piebaldism with regression of white forelock

In-frame Val216-Ser217 deletion of KIT in mild piebaldism causes aberrant secretion and SCF response

“…Since the mutation in our patients was an in-frame 2-amino acid deletion, misfolding of mut KIT was likely so hypomorphic when complexed with Wt-KIT that some of the protein was able to escape the ER quality control mechanism. Spontaneous repigmentation has been reported in some cases of piebaldism [18,[24][25][26][27][28][29]. In those reports, five patients were genetically analyzed [18,24,25,28]: two had frameshift mutations [18], and the others had missense mutations in the TK1 domain.…”

Piebaldism

“…1). 3 The white patches are commonly stable throughout life, even though pigmented dots or macules can develop at the margins or within the macules 28,29 . The severe form shows a typical white forelock on the frontal scalp and relatively larger leukoderma on the chest, abdomen, arms and legs.…”

Disorders of pigmentation

“…6 This hair change is present in up to 90% of those with piebaldism and it is sometimes found as an isolated change in the absence of cutaneous leukoderma. 17 Within the areas of hypomelanosis there are hyperpigmented and normally pigmented macules of various sizes. 17 Within the areas of hypomelanosis there are hyperpigmented and normally pigmented macules of various sizes.…”