A Case of Bloom Syndrome with Conjunctival Telangiectasia

Abstract: Bloom syndrome is a rare genodermatosis characterized by photosensitivity, telangiectasias, growth retardation and malignancies. Eye findings have rarely been mentioned in case reports of this syndrome. We report a child with Bloom syndrome who had pronounced bulbar conjunctival telangiectasia originally diagnosed as episcleritis. Bulbar telangiectasia are frequently described in other genodermatoses such as ataxia telangiectasia and hereditary hemorrhagic telangiectasia, but are Infrequently noted in Bloom syndrome. Previously described eye findings in Bloom syndrome are reviewed and the differential diagnosis of bulbar telangiectasia is discussed.     

Bloom syndrome in an Indian child

A girl presented with severely stunted growth, photosensitivity, and a characteristic facies. Cytogenetic studies were suggestive of Bloom syndrome. This disorder has not been previously documented in the literature in an Indian child. Minor variations in characteristics in this patient have been highlighted. Cytogenetically, she was found to be a low sister chromatid exchange mosaicism of Bloom syndrome.     

Kindler syndrome

Kindler syndrome is a rare autosomal recessive disorder associated with skin fragility. It is characterized by blistering in infancy, photosensitivity and progressive poikiloderma. The syndrome involves the skin and mucous membrane with radiological changes. The genetic defect has been identified on the short arm of chromosome 20. This report describes an 18-year-old patient with classical features like blistering and photosensitivity in childhood and the subsequent development of poikiloderma. The differential diagnosis of Kindler syndrome includes diseases like Bloom syndrome, Cockayne syndrome, dyskeratosis congenita, epidermolysis bullosa, Rothmund-Thomson syndrome and xeroderma pigmentosum. Our patient had classical cutaneous features of Kindler syndrome with phimosis as a complication.     

Hereditäre Photodermatosen

Hereditary photodermatoses are characterized by an increased photosensitivity caused by an inherited single gene defect. With few exceptions, they manifest in early childhood, reveal heterogeneous clinical symptoms, and are difficult to treat. Although these diseases are rare, it is very important to make an accurate diagnosis on the basis of clinical symptoms, specific diagnostic tests, and direct DNA analysis. We review the spectrum of inherited photodermatoses, including porphyria cutanea tarda, erythropoietic protoporphyria, actinic prurigo, Kindler syndrome, and disorders associated with a defect in DNA repair, including xeroderma pigmentosum, trichothiodystrophy, Cockayne syndrome, and Bloom syndrome. Early diagnosis may prevent complications associated with prolonged unprotected exposure to sunlight and makes it possible to offer genetic counseling and, when indicated, prenatal diagnosis to families at risk for these rare heritable disorders.     

School in photodermatology: Smith-Lemli-Opitz syndrome

The Smith-Lemli-Opitz syndrome has only recently been added to the small number of congenital disorders characterized by photosensitivity. The clinical features of this disorder are distinct from other photosensitivity syndromes. Details on the patho-mechanism of photosensitivity in the Smith-Lemli-Opitz syndrome have yet to be fully determined. However, preliminary evidence points to the deranged cholesterol metabolism that characterizes the syndrome as causal in this UVA-mediated photosensitivity disorder.     

Pellagra: a review with emphasis on photosensitivity

Niacin has recently been demonstrated to lower blood pressure in hypertensive patients and to reduce cardiovascular events when combined with a statin. As a consequence, niacin has been elevated from being of historical interest as the treatment for pellagra, to being a compound with possible relevance to contemporary therapeutics. In spite of this, niacin deficiency leading to pellagra continues to be a health problem in some countries. Characterized by an exposed-site hyperpigmented dermatitis, pellagra is generally accepted to have been the first photosensitivity syndrome described. At its worst, pellagra manifests as one of the most striking examples of systemic photosensitivity. This is the only photosensitivity syndrome where death is included as a cardinal clinical feature (the often quoted four 'Ds': dermatitis, diarrhoea, dementia and death). However, the pathogenetic mechanism for the photosensitivity caused by niacin deficiency has yet to be determined. This review seeks to update the classification and phenotypic characterization of the various forms of niacin-deficient photosensitivity. Previous speculation about possible mechanisms for the pathogenesis of photosensitivity due to niacin deficiency is reviewed in the context of advances in the understanding of the photochemical basis of photosensitivity reactions. The review concludes by highlighting research required to advance the understanding of this photosensitivity syndrome.     

Trichothiodystrophy

Trichothiodystrophy is a congenital dysplasia of hairs characterized by: a pathognomonic image of the hair shaft under polarized light (the hair is plaited with alternately dark and light oblique bands) and trichoschisis with a clear-cut break; a deficiency of sulphurated aminoacids in the hair. We report a case where trichothiodystrophy was associated with abnormalities of the nails, teeth and eyes, growth and mental retardation, neurological syndrome and hypogonadism. From this case and a review of the cases published so far the following points emerge: 1. Congenital abnormalities of the neuroectodermal system are frequent. They include: skin lesions, such as ichthyosis, photosensitivity and atopic eczema; ungueal dysplasia; dysmorphic syndrome; growth and mental retardation; hypogonadism; neurological and ophthalmic abnormalities. 2. The condition seems to be transmitted as an autosomal recessive trait. A common element, dysplasia, enables us to include in the same nosological group as trichothiodystrophy a number of other pathological conditions, viz.: syndromes hitherto described under various names but almost identical, such as Brown's syndrome and BIDS syndrome (brittle hair, intellectual deficit, decreased fertility, small stature); IBIDS and PIBIDS syndromes which, in addition to the former, comprise ichthyosis and photosensitivity, as well as Tay's syndrome (characterized by the presence in all cases of ichthyosis associated with hair dysplasia); and perhaps some anecdotic cases with either a pathognomonic image under polarized light or a suggestive biochemical profile. Finally, since typical trichothiodystrophy has been reported in patients with Siemens' syndrome or with Marviesco-Sj?gren syndrome, these two syndromes may perhaps also be classified in the same category, as borderline forms of the disease.     

Histopathologic and ultrastructural study of lupus-like skin lesions in a patient with Bloom syndrome

The histopathology of the lupus-like skin lesions associated with Bloom syndrome has been sporadically described. Skin biopsies from a 2-year-old boy with the classical features of Bloom syndrome, including lupus-like skin lesions, demonstrated marked interface changes with basal liquefaction degeneration, a moderate superficial mononuclear infiltrate, pigmentary incontinence, and capillary dilation in the papillary dermis. Immunophenotyping of the dermal infiltrate revealed predominance of T-cells. Basement membrane thickening on periodic acid-Schiff examination was not seen. Direct immunofluorescence failed to demonstrate deposits of immunoglobulin other than nonspecific IgM deposition along the basement membrane zone of lesional skin. Ultrastructurally, the most striking findings were disintegration of basal cell cytoplasm and tubuloreticular inclusions in vascular endothelia. Taken together, the histologic and ultrastructural features of lipus-like lesions associated with Bloom syndrome mimic those of cutaneous lupus erythematosus, with the exception of paucity of immune deposits at the dermoepidermal Junction.     

Photosensitivity in the Smith-Lemli-Opitz syndrome: the US experience of a new congenital photosensitivity syndrome.

Photosensitivity has been briefly mentioned in several publications on the Smith-Lemli-Opitz (SLO) syndrome, an autosomal recessive mental retardation syndrome. We conducted a questionnaire-based survey to determine the incidence and main features of photosensitivity in SLO. We confirmed a high incidence, and initial evidence suggests that SLO may be the first example of an inherited photosensitivity disorder in which sensitivity to UVA is common.     

Kindler syndrome

Kindler syndrome is a rare genodermatosis characterized by acral bullae and photosensitivity. The photosensitivity improves with advancing age and results in progressive poikiloderma and cutaneous atrophy, and many additional features have also been described. This report describes two male Kindler syndrome patients with classical features of acral blistering and photosensitivity in childhood, and subsequent development of poikiloderma, leukokeratosis of oro-ano-genital mucosae, phimosis and meatal stenosis. The first patient had additional ophthalmic features of chronic simple conjunctivitis caused by persistent irritation, multiple stromal nebular corneal opacities and thickened corneal nerves. The second patient showed skeletal changes, namely a dome-shaped skull (turri-cephaly), bifid fourth rib, missing fifth rib, short fourth and fifth metacarpals and mandibular abnormalities. This is the first report of such ophthalmic and skeletal features of Kindler syndrome.     

Contact allergic sensitivity to chrysanthemum and the photosensitivity dermatitis and actinic reticuloid syndrome

Of sixty-nine examples of the photosensitivity dermatitis and actinic reticuloid syndrome, nine were found to be allergically sensitive to chrysanthemum oleoresin extract. Although this extract showed evidence in vitro of a phototoxic action we were unable with in vivo studies to explain the connection between the contact allergic sensitivity and the photosensitivity. The fractions responsible for the in vitro phototoxicity appear to be different from those involved in the in vivo contact allergic sensitivity. This study provides further support for the view that in the photosensitivity dermatitis and actinic reticuloid syndrome contact allergic sensitivity is of importance.     

Cellulitis due to Escherichia coli in three immunocompromised subjects

A case of severe photosensitivity in a girl with the Smith–Lemli–Opitz syndrome is reported. Children with this recessively inherited metabolic disorder of cholesterol metabolism present with a variety of congenital abnormalities of the nervous system and internal organs in association with varying degrees of mental retardation. Photosensitivity is a feature which has previously only briefly been mentioned in the literature in association with this syndrome. However, more recently, it has become apparent that photosensitivity is not uncommon among children with the Smith–Lemli–Opitz syndrome, although the nature of the photosensitivity in these patients has remained undefined. Our patient has suffered from sunlight intolerance since early infancy, with redness and pruritus of sun-exposed skin developing within minutes of sun exposure. Monochromator ultraviolet (UV) radiation and visible light testing revealed an immediate and persistent reaction to low-dose UVA at 350 nm, and an abnormal erythemal response to visible light at 400 nm.     

Characterization of photosensitivity in the Smith-Lemli-Opitz syndrome: a new congenital photosensitivity syndrome

Photosensitivity has recently been reported as a feature of the Smith-Lemli-Opitz syndrome (SLO). The aim of this study was to establish the photobiological features of this disorder and to examine the hypothesis that the photosensitivity is caused by the high levels of 7-dehydrocholesterol found in SLO. All known cases of SLO in the U.K. were reviewed and clinical details of photosensitivity were recorded in detail. The action spectrum of the photosensitive eruption was defined by monochromator light testing. Thirteen of the 23 subjects (57%) had severe photosensitivity, and in 10 there was no photosensitivity. No correlation was identified between levels of 7-dehydrocholesterol and severity of photosensitivity, suggesting that the photosensitivity in SLO is not caused by a direct phototoxic effect mediated by 7-dehydrocholesterol. A novel pattern of photosensitivity was observed, with onset of a sunburn-like erythema on sun-exposed skin within minutes of sun exposure, which persisted in most cases for up to 24-48 h before fading. Monochromator light testing in three subjects showed an ultraviolet (UV) A-mediated photosensitivity eruption with greatest photosensitivity at 350 nm. Photosensitivity is a common and prominent feature of SLO and appears to be UVA-mediated. Elucidation of its biochemical basis may provide insight into normal cutaneous protective mechanisms against UVA-induced photodamage, and also sun sensitivity in general.     

Contact allergic sensitivity to plants and the photosensitivity dermatitis and actinic reticuloid syndrome

Contact allergic sensitivity to oleoresin extracts from Compositae plants was found to be usually present in individuals suffering from the photosensitivity dermatitis and actinic reticuloid syndrome. It was demonstrated in forty-seven out of fifty-five examples of this syndrome. These results provide support for the view that contact allergic sensitivity is an important aspect of the state of chronic photosensitivity in the middle-aged and elderly male.     

Rothmund-Thomson syndrome. The first case with plantar keratoderma and the second with coeliac disease

We report two unusual patients with Rothmund-Thomson syndrome (RTS), a rare genodermatosis. The first patient is a 5-year-old girl with congenital poikiloderma, photosensitivity, plantar punctate keratoderma, stunted growth and severe mental retardation. Plantar keratoderma associated with RTS has been reported only once. The second patient is a 21-year-old female presenting with rounded "moon" face, trunk obesity, coeliac disease, short stature and mild mental retardation. This is the first case of RTS associated with coeliac disease.     

The natural history of chronic actinic dermatitis

OBJECTIVE: To determine the prognosis for resolution of abnormal cutaneous photosensitivity in patients with chronic actinic dermatitis (also known as the photosensitivity dermatitis and actinic reticuloid syndrome). DESIGN: Historical cohort study involving follow-up of patients for up to 24 years from diagnosis. SETTING: A Scottish tertiary referral center for investigation of photodermatosis. PATIENTS: One hundred seventy-eight patients with chronic actinic dermatitis, 62% of a cohort of 285 living patients identified in the Photobiology Unit database. INTERVENTIONS: Recall for repeated clinical assessment and monochromator phototesting. All patients underwent patch testing when initially assessed; this was repeated at follow-up in a subgroup of patients. MAIN OUTCOME MEASURES: Resolution of abnormal photosensitivity, defined as clinical resolution and return of phototest responses to within normal population limits. In addition, possible prognostic factors for resolution of photosensitivity were examined. RESULTS: The probability of abnormal photosensitivity resolving by 10 years from diagnosis is 1 in 5. Particularly severe abnormal UV-B photosensitivity (minimal erythema dose at 305+/-5 nm half-maximum bandwidth, < or =5.6 mJ x cm(-2)) and the identification of separate contact allergens in 2 or more patch test batteries are predictors of a poorer prognosis for resolution. Loss of contact allergies was not associated with a different prognosis for photosensitivity resolution. Our findings probably underestimate the probability of resolution, as those referred to a tertiary referral center and willing to attend for follow-up may include a disproportionate number of severely affected patients. CONCLUSIONS: Newly diagnosed patients can be told that most of them will improve with appropriate UV/visible light and allergen avoidance and that there is hope that their photosensitivity will completely resolve.     

Kindler syndrome in a Saudi kindred

We report a large consanguineous Saudi-Arabian pedigree containing 11 individuals with the autosomal recessive genodermatosis, Kindler syndrome. Three affected cases died in infancy but the remaining eight had signs of photosensitivity, generalized poikiloderma, webbed fingers, loss of dermatoglyphics and nail dystrophy. The majority also had oral involvement with bleeding gums. Additional features seen in some cases included pseudoainhum of the toes, sclerotic bands on the wrists and hand deformities. The aetiology of Kindler syndrome is not yet known, but the underlying defect leads to both cutaneous and oral inflammation, along with photosensitivity and scarring.     

Photosensitivity: a possible cause for Wells' syndrome?

Wells' syndrome is a rare inflammatory dermatitis. To date, the cause is unknown but it has been associated with a variety of triggers. We present a case of Wells' syndrome with coexisting photosensitivity.     

Bloom综合征1例

患者,女,17岁。面部毛细血管扩张17年。出生40天出现面部多发粟粒大红色丘疹,伴毛细血管扩张。系统检查正常。组织病理改变符合Bloom综合征。     

Rothmund-Thomson Syndrome in Two Siblings

Rothmund-Thomson syndrome, a rare autosomal recessive disorder, is characterized by photosensitivity; specific skin changes including poikiloderma, atrophy, and telangiectases; juvenile cataracts; short stature; and bone defects. We describe two siblings with this syndrome.