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Photodermatoses associated with defective DNA repair are a group of photosensitive hereditary skin disorders. In this review, we focus on diseases and syndromes with defective nucleotide excision repair that are not accompanied by an increased risk of cutaneous malignancies despite having photosensitivity. Specifically, the gene mutations and transcription defects, epidemiology, and clinical features of Cockayne syndrome, cerebro-oculo-facial-skeletal syndrome, ultraviolet-sensitive syndrome, and trichothiodystrophy will be discussed. These conditions may also have other extracutaneous involvement affecting the neurologic system and growth and development. Rigorous photoprotection remains an important component of the management of these inherited DNA repair–deficiency photodermatoses.

Hereditary photodermatoses are a spectrum of rare photosensitive disorders that are often caused by genetic deficiency or malfunction of various components of the DNA repair pathway. This results clinically in extreme photosensitivity, with many syndromes exhibiting an increased risk of cutaneous malignancies. This review will focus specifically on the syndromes with malignant potential, including xeroderma pigmentosum, Bloom syndrome, and Rothmund-Thomson syndrome. The typical phenotypic findings of each disorder will be examined and contrasted, including noncutaneous identifiers to aid in diagnosis. The management of these patients will also be discussed. At this time, the mainstay of therapy remains strict photoprotection; however, genetic therapies are under investigation.

Rothmund-Thomson syndrome is a rare, inherited disorder characterized by poikilodermatous skin changes that appear in infancy. The inheritance is autosomal recessive. Patients exhibit variable features including skeletal abnormalities, juvenile cataracts, and a higher than expected incidence of malignancy. This extensive review of the world literature clarifies aspects of the inheritance, incidence of characteristic features, and malignant potential of this disease. Insight into its origin is provided through a review of the clinical and in vitro studies of endocrine function and possible DNA repair abnormalities.

Kindler syndrome is characterized by congenital blister formation, photosensitivity, poikiloderma, and cutaneous atrophy in later life. There are few reports about the ultrastructural features of this syndrome, but still there is no consensus about the basic disease. Here we report a case of Kindler syndrome with ultrastructural findings.

We describe a patient with Kindler syndrome with an 18-year follow-up who was initially misdiagnosed as suffering from dystrophic epidermolysis bullosa. The patient's skin showed broad reticulate labeling for collagen VII and reduplication of the lamina densa. Screening of this patient's DNA excluded any pathogenic COL7A1 mutations.

A 64-year-old woman experienced progressive generalized poikiloderma after an episode of sunburn 4 years earlier. The diagnosis of subacute cutaneous lupus erythematosus (SCLE) was confirmed by the presence of anti-Ro/SS-A and antinuclear antibodies, the histology, and the direct immunofluorescent findings (ie, positive lupus band test and "dustlike" epidermal IgG staining pattern). Poikiloderma has not been previously reported in the spectrum of SCLE. As a major pathomechanism of SCLE, photosensitivity might explain this uncommon clinical manifestation of the disease. (J Am Acad Dermatol 2000;42:286-8.)

Mandibuloacral dysplasia is a rare syndrome characterized by mandibular hypoplasia, delayed cranial suture closure, dysplastic clavicles, abbreviated, club-shaped terminal phalanges, acroosteolysis, atrophy of the skin over the hands and feet, and poikilodermatous skin changes. We describe the cases of two siblings with features of mandibuloacral dysplasia who as children were considered to have hereditary sclerosing poikiloderma. On their reevaluation as adults, the clinical features of their condition were perceived to be compatible with mandibuloacral dysplasia.

Rothmund-Thomson syndrome is a rare genodermatosis that features a progressive, early-onset poikiloderma, a high incidence of juvenile cataracts, stunted growth, and a wide range of skeletal abnormalities. We report the seventh case of osteosarcoma in a patient with Rothmund-Thomson syndrome and review the previous reports describing this association.

A classification of primary hyperpigmentation conditions is presented. The emphasis is on clinical aspects and an attempt has been made to show, when possible, a spectrum beginning with localized involvement and progressing to the more extensive involvement. Most primary hyperpigmentation conditions and syndromes are inherited by autosomal dominant genetics; notable exceptions include incontinentia pigmenti, classic dyskeratosis congenita, and xeroderma pigmentosum. Early German case reports provide insight into the spectrum of uncommon pigmentary conditions, such as dermatopathia pigmentosa reticularis. The Japanese observe pigmentary problems frequently, have presented some of the more unusual cases, and have recently provided us with much-needed research into the problem of abnormal pigmentation.

Rothmund-Thomson syndrome is a rare hereditary syndrome with developmental defects. Characteristics of this syndrome, based on a review of 107 reported cases in the literature, are (in descending order) as follows: early onset of poikiloderma, short stature, absence or sparseness of eyebrow and/or eyelash hair, familial juvenile cataracts, small hands and bone defects, sunlight sensitivity, hypogonadism, defective dentition, nail abnormality, hyperkeratosis, and mental retardation. Recently we encountered a 25-year-old white woman who had developed this syndrome but without juvenile cataracts, hypogonadism, or mental retardation. She had developed a basal cell epithelioma, which has not previously been described in this syndrome. Phototesting with monochromatic radiation and with a solar simulator showed photosensitivity in the ultraviolet A range but not in the ultraviolet B range. This case may represent an example of the Thomson type. The case is described and the literature reviewed.

Rothmund-Thomson syndrome is a rare hereditary syndrome with developmental defects. Characteristics of this syndrome, based on a review of 107 reported cases in the literature, are (in descending order) as follows: early onset of poikiloderma, short stature, absence or sparseness of eyebrow and/or eyelash hair, familial juvenile cataracts, small hands and bone defects, sunlight sensitivity, hypogonadism, defective dentition, nail abnormality, hyperkeratosis, and mental retardation. Recently we encountered a 25-year-old white woman who had developed this syndrome but without juvenile cataracts, hypogonadism, or mental retardation. She had developed a basal cell epithelioma, which has not previously been described in this syndrome. Phototesting with monochromatic radiation and with a solar simulator showed photosensitivity in the ultraviolet A range but not in the ultraviolet B range. This case may represent an example of the Thomson type. The case is described and the literature reviewed.