Angioma serpiginosum with retinal involvement in a male: a possible aetiological role of continuous cold exposure

Abstract

Laugier-Hunziker syndrome (LHS) is a rare disorder characterized by melanotic pigmentation of the mouth and lips which is frequently associated with longitudinal melanonychia. Laugier and Hunziker described lenticular melanotic pigmentation of the oral cavity and lips in 1970. 1 Some cases have been described in which the neck, thorax, abdomen, fingers and soles have been involved. Fingernails are more frequently involved than the toenails. 2 Melanonychia may also be seen with or after lichen planus (LP). 3,4 We report a case of LHS associated with actinic LP.A 37-year-old Turkish woman was referred to our clinic with melanotic macules on the face, a pruritic annular plaque on the malar area of her face and hyperpigmented streaks on her nails, which had appeared for 19 years, 10 months and 6 years, respectively.Examination revealed the patient's pigmented macules on the lips, gums, buccal mucosa and midline of the hard palate ( fig. 1a). There were melasma and pinkish annular plaque, with a hyperpigmented centre ( fig. 1b). There were longitudinal melanonychia on her fingernails ( fig. 1c) and toenails. Hyperpigmented slate-grey to brown macular lesions were seen over her back. Examination of intertriginous areas did not reveal any evidence of acanthosis nigiricans. The skin phototype according to Fitzpatrick's scale was IV.Results of routine laboratory tests were within normal ranges, including triiodothyronine (T3), thyroxine (T4) and thyrotropin (TSH). The patient had smoked for 20 years. Her mother had melasma. Histopathological examination of pigmented macula on the buccal mucosa showed an accumulation of melanin in the cells of the basal layer of the acanthotic epidermis and an increased number of melanophages in the upper dermis ( fig. 2). Histopathologically, there was thinning of the epidermis with vacuolar alteration of the basal layer, an artifactural cleft between the epidermis and the lichenoid infiltrate and pigment incontinence in the upper dermis on the annular lesion over the cheek (fig. 3).Since the first description by Laugier and Hunziker, many cases of LHS have been reported. 2,[5][6][7] In this syndrome, the essential lesions are manifested as lenticular-pigmented macules, which have different colours (from grey to brown to blueblack) and a smooth surface. Generally symptoms are absent. The most common sites are the lips (especially the lower lip) and the oral cavity (buccal mucosa and hard palate). Other sites such as labial comissure, the gums the floor of the mouth and the tongue are less frequent. Other locations such as the abdomen and the fingers have been involved. Fingernail involvement can present as a single longitudinal 1-2-mm-wide streak or as a double 2-3-mm-wide longitudinal streak on the lateral parts of the nail plate, as a homogeneous pigmentation of the radial or ulnar half of the nail, and complete pigmentation of the nail. All four types of nail involvement may simultaneously involve one or more nails of the fingers and /or toes. 2 fig. 1 (a) Multiple pigmented macules lo...

Angioma Serpiginosum with Extensive Lesions Associated with Retinal Vein Occlusion

“…Recently, Erbagci et al [9] have also reported tortuous and slightly ectatic retinal vessels associated with angioma serpiginosum. Interestingly, our patient was diagnosed as having branched retinal vein occlusion.…”

“…The lesions are usually asymptomatic, but previous reports have suggested that cold can cause an aching or throbbing pain [9,10] . Our patient reported severe pain but stated that there was no relationship between her pain and temperature.…”

Angioma Serpiginosum Arranged in a Systematized Segmental Pattern Suggesting Mosaicism

“…A familial occurrence of AS has also been observed and, remarkably, all of the affected family members showed a rather symmetric and nonsegmental involvement [10]. By way of exception, an extracutaneous involvement in the form of ocular and central nervous system lesions has been reported [11, 12]. …”

Angioma serpiginosum with oesophageal papillomatosis is an X-linked dominant condition that maps to Xp11.3–Xq12

“…3 The rash resembles purpura, 4 -6 but there are no signs of inflammation or bleeding. 7,8 The vascular capillary nests in the subepidermal papillae are not simple telangiectasias but represent a capillary naevus with both dilatation and proliferation of thick-walled capillaries having slit-like protrusions of capillary lumen into the endothelial lining. 9,10 Only incomplete blanching by pressure can be obtained.…”