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Squamous Cell Carcinoma

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Mutations in the genes MATP (OCA4) and TYRP1 (tyrosinase-related protein) are associated with less common types of oculocutaneous albinism. The increased risk of SCC of the skin in people with these mutations has not been quantified. It is generally assumed to be similar to other types of albinism.

Other albinism syndromes

A subgroup of albinism includes people who exhibit a triad of albinism, prolonged bleeding time, and deposition of a ceroid substance in organs such as the lungs and gastrointestinal tract. This syndrome, known as Hermansky-Pudlak syndrome, is inherited in an autosomal recessive manner but may have a pseudodominant inheritance in Puerto Rican families, owing to the high prevalence in this population.[79] The underlying cause is believed to be a defect in melanosome and lysosome transport. A number of mutations at disparate loci have been associated with this syndrome, including HPS1, HPS3, HPS4, HPS5, HPS6, HPS7 (DTNBP1), HPS8 (BLOC1S3), and HPS9 (PLDN).[80,81,82,83,84,85,86,87] Pigmentation characteristics can vary significantly in this disorder, particularly among those with HPS1 mutations, and patients report darkening of the skin and hair as they age. In a small cohort of individuals with HPS1 mutations, 3 out of 40 developed cutaneous SCCs, and an additional 3 had BCCs.[88] Hermansky-Pudlak syndrome type 2, which includes increased susceptibility to infection resulting from congenital neutropenia, has been attributed to defects in AP3B1.[89]

Two additional syndromes are associated with decreased pigmentation of the skin and eyes. The autosomal recessive Chediak-Higashi syndrome is characterized by eosinophilic, peroxidase-positive inclusion bodies in early leukocyte precursors, hemophagocytosis, increased susceptibility to infection, and increased incidence of an accelerated phase lymphohistiocytosis. Mutations in the LYST gene underlie this syndrome, which is often fatal in the first decade of life.[90,91,92]

Griscelli syndrome, also inherited in an autosomal recessive manner, was originally described as decreased cutaneous pigmentation with hypomelanosis and neurologic deficits, but its clinical presentation is quite variable. This combination of symptoms is now designated Griscelli syndrome type 1 or Elejalde disease. It has been attributed to mutations in the MYO5A gene, which affects melanosome transport.[93] Individuals with Griscelli syndrome type 2 have decreased cutaneous pigmentation and immunodeficiency but lack neurological deficits. They also may have hemophagocytosis or lymphohistiocytosis that is often fatal, like that seen in Chediak-Higashi syndrome. Griscelli syndrome type 2 is caused by mutations in RAB27A, which is part of the same melanosome transport pathway as MYO5A.[94] Griscelli syndrome type 3 presents with hypomelanosis and does not include neurologic or immunologic disorders. Mutations in the melanophilin (MLPH) gene and MYO5A have been associated with this variant.[95]

Dystrophic epidermolysis bullosa

Approximately 95% of individuals with the heritable disorder dystrophic epidermolysis bullosa (DEB) have a detectable germline mutation in the gene COL7A1. This gene, which is located at 3p21.3, is expressed in the basal keratinocytes of the epidermis and encodes for type VII collagen. This collagen forms a part of the fibrils that anchor the basement membrane to the dermis, thereby providing structural stability and resistance to mild skin trauma.[96] The lack of type VII collagen results in generalized blistering, often starting from birth, and is associated with skin atrophy and scarring.[96] A registry of DEB mutations, The International DEB Patient Registry, is accessible on the Internet.[97]

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