Hyperpigmentation familial progressive L81.4

Chernosky et al. 1971

Familial progressive hyperpigmentation is a very rare (since the first description in 1971 in an African-American family <20 confirmed cases have become known), sporadically occurring or autosomal dominant inherited genodermatosis (Gupta N et al. 2011), which is characterized by initially patchy and later increasingly diffuse hyperpigmentation (Wang T et al. 2017).

mutation in the KITLG gene (KITLK=KitLigand see kit below). Phenotypically identical cases without mutations in KITLG have been described (Xiao-Kai F et al. 2017), so that further genotypes can be assumed.

Already occurring at birth or in the first years of life, progressive initially patchy, later generalized hyperpigmentation of the skin. Mucous membranes (especially also the ocular mucosa), palms and soles are not affected. During adolescence, the pigmentation process slows down. Lightening of the skin is possible in later life. Systemic co-involvement has been reported sporadically(gastrointestinal stromal tumors /GIST ) and mastocytomas) (Piqueres-Zubiaurre T et al. 2017).

Significantly increased hyperpigmentation of the epidermis, especially of the basal keratinocytes. The epithelium is otherwise unchanged. Electron microscopy shows an increased number of melanosomes in lesional keratinocytes (Wang T et al. 2017).

Familial progressive hyper- and hypopigmentation with KITLG mutation (Xiao-Kai F et al. 2017).

Familial progressive hyper- and hypopigmentation without KITLG mutation (Zeng L et al. 2016).

Westerhof syndrome: Universal hyperpigmentation (but also with hypopigmentation) with mental retardation.

Other universal hyperpigmentations (see below hyperpigmentations universal).

A therapy is not possible .

The term "carbon baby" resulted from the initially difficult to explain situation that 2 light-skinned parents had a dark-skinned child, so that doubts about parenthood arose with increasing hyperpigmentation (Niiyama S et al. 2013).

1. Gupta N et al (2011) Familial progressive hypermelanosis in Indian monozygotic twins. Pediatric dermatol 28:62-65.
2. Niiyama S et al. (2013) Universal acquired melanosis: carbon baby. Dermatol Online J 19(7):18961.
3. Piqueres-Zubiaurre T et al (2017) Familial Progressive Hyperpigmentation, Cutaneous Mastocytosis, and Gastrointestinal Stromal Tumor as Clinical Manifestations of Mutations in the c-KIT Receptor Genes. Pediatric Dermatol 34:84-89.
4. Wang T et al (2017) Familial progressive hyperpigmentation: A family resurvey and ultrastructural skin investigation. J Cutan Pathol 44:948-950.
5. Xiao-Kai F et al (2017) Familial progressive hyper- and hypopigmentation: a report on a Chinese family and evidence for genetic heterogeneity. To Bras Dermatol 92:329-333.
6. Zeng L et al (2016) Familial progressive hyper- and hypopigmentation without KITLG mutation. Clin Exp Dermatol 41:927-929.