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Fundus manifestations of primary hyperoxaluria include crystalline deposits, focal or diffuse macular hyperpigmentation, and subretinal fibrosis. Choroidal neovascularization has been hypothesized to underlie the pathogenesis of subretinal fibrosis, yet its manifestations are rarely observed. We report a case of infantile primary hyperoxaluria type 1 in a 17-month-old infant with macular subretinal fluid and subretinal hemorrhage that was associated with leakage on fluorescein angiography and responded to bevacizumab treatment, consistent with choroidal neovascularization. This case suggests that choroidal neovascularization may contribute to subretinal fibrosis and subsequent vision loss in infantile primary hyperoxaluria and may benefit from anti-vascular endothelial growth factor therapy.

Melanosis, clinically presenting as a benign macular hyperpigmentation, consists of increased pigmentation (melanotic or melanocytic) either in the mucosal epithelial cells or as subepithelial pigment-laden macrophages. On the other hand, primary sinonasal mucosal melanoma (SNMM) is a rare disease with poor prognosis and high rates of local recurrence and metastasis. We report follow-up on a previously presented case of a 53-year-old man with recurrent clinical melanosis that progressed from histopathological melanocytic hyperplasia to melanoma in situ over a period of 4.8 years (Yao et al. Allergy Rhinol (Providence), 2016;7(3):164-167). The patient experienced multiple recurrences and local spread despite multiple extensive surgeries. We now report that this patient ultimately developed bilateral invasive SNMM and died with metastatic melanoma. Molecular analysis of the invasive melanoma revealed ALK rearrangement, specifically an EML4-ALK fusion, which represents the first report of this particular genetic variant in mucosal melanoma.

Literature on treating acquired dermal macular hyperpigmentation is sparse.To assess treatment response of mycophenolate mofetil in patients having acquired dermal macular hyperpigmentation.In this open-label, pilot study, patients of acquired dermal macular hyperpigmentation affecting at least the face and/or neck were included. Each participant was treated with mycophenolate mofetil 2 g/day for 24 weeks, with a follow-up of 12 weeks. Two aspects of disease severity were measured: activity (appearance of new lesions/extension of existing lesions), and degree of hyperpigmentation (measured using 'dermal pigmentation area and severity index'). Patient satisfaction was assessed on a scale of 0-10.Forty-three of 46 patients who were prescribed mycophenolate, completed the study (40 females, 6 males; mean disease duration 2.8 ± 1.4 years). Amongst 20 (43.5%) patients with active disease, stability was achieved in 17, after a mean duration of 6.1 ± 2.5 weeks (range 4-12 weeks; median 4; IQR 4 weeks). Mean dermal pigmentation area and severity index at baseline was 18.8 ± 7.1 and decreased to 13.7 ± 6.3 at 24th week (27.5 ± 14.7%; P 0.001). A significant decreasing trend in dermal pigmentation area and severity index (P 0.001) was observed, and first significant difference from baseline was noted at the 16th week (P 0.008). Less than 10%,10-20%,20%-30%,30%-40%,40%-50%, and50% reduction in dermal pigmentation area and severity index was observed in 8, 5, 4, 15, 10 and 1 patients/patient respectively. The maximum mean grade of pre-treatment dermatoscopic severity was 3 ± 0.7, and decreased to 2.1 ± 0.8 on the face (P 0.001) and 2.4 ± 0.7 on the neck (P 0.001) post-treatment. There were 9 (20.1%) non-responders. Self-assessment scores of the rest of the patients fell in the range of moderate/fair improvement (5 to 7). No significant correlation was seen between patient satisfaction score and degree of reduction in dermal pigmentation area and severity index (r -0.39). Three developed adverse effects (leucopenia, n = 1; transaminitis and hyperbilirubinemia, n = 2) that resolved following discontinuation of mycophenolate.Mycophenolate mofetil appears to be a promising treatment option in acquired dermal macular hyperpigmentation.

Background/objectives The picosecond Alexandrite laser was studied in our practice with the diffractive lens array and the flat optic to treat melasma. Methods and materials Sixty patients with melasma were treated in a prospective investigation with the picosecond Alexandrite laser. Nineteen patients were treated with the flat optic and 41 patients were treated with the diffractive lens array. Treatments were performed with 1 pass at 2-week intervals for 6 treatments. The Melasma Severity Index (MSI) was used to evaluate the patients before treatment and 3 and 6 months after the final treatment session. Results At 6 months after the last treatment, there was an 18.5% difference between the groups with a 75.7% improvement in the MSI in patients with the diffractive lens array and a 57.2% improvement in the MSI score in patients with the flat optic. At 6 months, there was recurrence of melasma in 5% of the cases with no hyperpigmentation with the diffractive optic in contrast to recurrence in 16% of the cases in the flat optic group and a transient macular hyperpigmentation in 21% of the cases. Conclusion This investigation highlights the utility of a picosecond Alexandrite laser with a flat and diffractive lens to successfully treat a large percentage of Asian patients in a sunny climate.

Introduction: Acquired dermal hyperpigmentation (ADMH) presenting on periorbital region has been described as individual case reports. We tried to characterize the features of periorbital ADMH. Materials and Methods: This was a retrospective case-control study among our patients who attended the pigmentary clinic during January 2016–December 2017. Clinical, dermoscopic, and histopathological features of subjects who were recruited during the study period were prospectively evaluated. Results: Total 19 subjects (11%) were identified among 177 ADMH patients. Periorbital ADMH patients had a relatively younger age of onset (23.26 ± 11.06 vs. 36.16 ± 13.41, P < 0.001). Dermoscopy of early periorbital ADMH showed only imperceptible speckled blue-gray dots that accentuated at outer-corner creases of eyes (the “outer-corner crease sign”). Clinicopathological features and prognosis of periorbital ADMH were similar to that of ADMH per se. Conclusion: Periorbital ADMH should be considered as a differential diagnosis of periorbital hyperpigmentation in children and young adults. Outer-corner crease sign on dermoscopy may help to rule out other differentials in its early presentation.

BACKGROUND Dermal pigmentation area and severity score (DPASI) is a recently proposed scoring system for acquired dermal macular hyperpigmentation (ADMH). OBJECTIVE To determine the reliability and validity of DPASI. METHODS After standardized training, three researchers independently rated 55 patients with ADMH on two consecutive days within 1 week, to determine intra-rater and inter-rater reliability. Validation was performed by comparing DPASI with the physician global assessment score. RESULTS Test-retest reliability of individual raters tested by Pearson's r showed good correlation for all three raters (r = 0.984, P

Background Acquired dermal macular hyperpigmentation (ADMH) is an umbrella term including lichen planus pigmentosus, erythema dyschromicum perstans and pigmented contact/cosmetic dermatitis. Objective To establish contact sensitization to hair colours as an aetiological factor for ADMH. Methods Detailed clinical examination, skin biopsies, and patch and photo-patch testing with Indian standard series and patient's own cosmetic products were performed. Results Thirty-nine (36.1%) patients were found to demonstrate a positive patch/photo-patch test with 35/39 reacting to their own products (all were hair colours) and 16/39 reacting to antigens from commercial series (commonly paraphenylenediamine). Fourteen patients developed delayed hyperpigmentation on positive patch-test sites at 1 month. Higher mean age, symptomatic pigmentation (pruritus, burning and photosensitivity), hair margins involvement (outer surface, helix and lobule of ear; temples and preauricular area), ill-defined lesions, epidermal atrophy and epidermal melanization extending >3 layers were significantly common in patch-test-positive patients. Well-defined lesions, perioral involvement and associated lichen planus were clinical pointers towards patch-test negativity. Conclusion Index study exemplifies that patch-test results have distinct clinical and histopathological correlates in ADMH. Hair dye contact sensitization appears to be an important aetiological factor in about one-third patients presenting with ADMH.

Background Stargardt disease (STGD) and age-related macular degeneration (AMD) share clinical and pathophysiological features. In AMD, macular hyperpigmentary changes are associated to a worse prognosis. The purpose of this study was to characterize macular hyperpigmentary changes in patients with STGD and associate them with the severity of phenotype. Materials and methods This retrospective cross-sectional study included 141 patients with STGD. Hyperpigmentary changes were evaluated on color fundus photography and spectral-domain optical coherence tomography. Severity of phenotype was assessed by full-field electroretinogram (ffERG) and fundus autofluorescence (FAF) patterns, and visual acuity (VA). Results Thirty patients (21.7%) showed macular hyperpigmentary changes in four distinct patterns. Out of seventeen patients who had follow-up images, eleven patients demonstrated increases of the hyperpigmented lesions, and progression of the underlying RPE atrophy overtime. VA remained stable. Of 28 patients who had ffERG, 17 patients presented with reduction of photopic and scotopic responses, while 8 presented with reduction of photopic responses only, and 3 presented with preserved photopic and scotopic responses. Of 25 patients who had FAF available, 12 presented with widespread disease extending anteriorly to the vascular arcades, while eight presented with widespread disease, extending beyond the vascular arcades, and 5 presented with disease confined to the foveal area. Conclusion In this study, we demonstrated that patients with STGD with macular hyperpigmented lesions had a severe phenotype. Overtime, hyperpigmented lesions increased in size, spread across the retina, and migrated to different retinal layers. Macular hyperpigmentation may be a marker of advanced stage of the disease.

The Q-switched Nd:YAG laser is an established modality of treatment for epidermal and dermal pigmented lesions. The dual wavelengths of 1064nm and 532nm are suited for the darker skin tones encountered in India. Though this laser has become the one of choice for conditions such as nevus of Ota, Hori's nevus and tattoos, its role in the management of melasma and other acquired dermal melanoses is not clear. Despite several studies having been done on the Q-switched Nd:YAG laser in melasma, there is no consensus on the protocol or number of sessions required. Acquired dermal melanoses are heterogenous entities with the common features of pigment incontinence and dermal melanophages resulting in greyish macular hyperpigmentation. This article reviews the current literature on laser toning in melasma and the role of the Q-switched Nd:YAG laser in stubborn pigmentary disorders such as lichen planus pigmentosus. As the pathology is primarily dermal or mixed epidermal-dermal in these conditions, the longer wavelength of 1064nm is preferred due to its deeper penetration. Generally multiple sessions are needed for successful outcomes. Low fluence Q-switched Nd:YAG laser at 1064nm utilizing the multi-pass technique with a large spot size has been suggested as a modality to treat melasma. Varying degrees of success have been reported but recurrences are common on discontinuing laser therapy. Adverse effects such as mottled hypopigmentation have been reported following laser toning; these can be minimized by using larger spot sizes of 8 to 10mm with longer intervals (2 weeks) between sessions.

Context: An umbrella term, acquired dermal macular hyperpigmentation (ADMH), has been proposed to denote conditions including ashy dermatosis, erythema dyschromicum perstans, lichen planus pigmentosus, and idiopathic macular eruptive pigmentation. Aims: To classify the patients manifesting ADMH on the basis of histology. Settings and Design: In this retrospective, cross-sectional study, histology specimens of patients of ADMH, who underwent skin biopsy in our institution from 1.1 2015 to 31.12.2017, were included after obtaining ethical clearance. Materials and Methods: The histology specimens of patients of ADMH were reviewed by the pathologist and classified. Clinical features of individual patient were collected from previous records and the data analyzed. Statistical Analysis Used: Pearson's Chi-square test was used to determine significance of association between age of onset and duration of pigmentation with histology type. Results: Three patterns of histology were identified in the study group (17 males and 13 females). Type 1: Basal cell degeneration and moderate to dense inflammation (12 patients, 40%), type 2: Significant pigment incontinence and sparse inflammation without basal cell degeneration, (12 patients, 40%), and type 3: sparse inflammation without basal cell degeneration or significant pigment incontinence (six patients, 20%). Statistically significant association was noted between age of onset of pigmentation and histology type (P value, 0.02). Limitations: Main limitation was the small sample size. Conclusions: Prospective studies evaluating the clinical progression and dermoscopy features and analyzing serial biopsies of ADMH patients may confirm whether the histology patterns observed represent different stages of same disease process or are different entities.

Background Doyne honeycomb retinal dystrophy (DHRD)/malattia leventinese (ML) is an autosomal dominant, progressive retinal disorder characterized by massive central retinal drusen often partly coalescent forming a characteristic honeycomb‐like pattern. Debut of vision loss often occurs in early to mid‐adulthood, and the degree varies. A single variant in EFEMP1: c.1033C>T (R345W) has been identified as the cause in all cases. Methods Following DNA isolation, exome sequencing was performed in seven genes associated with flecked retina. Direct sequencing was used for variant verification. Results We report the first Scandinavian case of molecular genetically verified DHRD/ML: a 57‐year‐old woman debuting with vision loss and metamorphopsia. On both eyes, ophthalmological findings included massive hard drusen in the macular region and nasal to the optic disc as well as macular hyperpigmentation. Secondary choroidal neovascularizations were identified on both eyes, and anti‐vascular endothelial growth factor was administered, without effect. Conclusion Molecular genetic investigation revealed heterozygosity for the known pathogenic missense variant in EFEMP1: c.1033C>T (R345W) previously reported in relation to DHRD/ML. Family history revealed no other cases of similar visual impairment suggesting a de novo mutation. Furthermore, there was no correlation between the unique DHRD/ML haplotypes reported in the literature and our patient., To the best of our knowledge, this case represents the first molecular genetically verified case of DHRD/ML in Scandinavia. A haplotype comparison to the originally described Swiss R345W haplotype suggest a de novo mutation in our index.

The choriocapillaris nourishes the outer retina. It separates the outer retina by a collagenous layer, called Bruch’s membrane (BM). In age-related macular degeneration, BM accumulates debris (basal linear deposits), which together with the formation of basal laminar deposits and drusen beneath the plasma membrane of the retinal pigment epithelium trigger the pathogenesis of dry age-related macular degeneration. BM gradually thickens, thereby limiting the nutrient and oxygen transfer from the choriocapillaris to the outer retina. Also, the secreted molecules from the retinal pigment epithelium cannot reach to the choriocapillaris. As a result, the choriocapillaris undergoes atrophy. To compensate, in a late stage of the disease (wet or exudative age-related macular degeneration), new blood vessels grow by budding from the surviving choriocapillaris, a pathological event called choroidal neovascularization (CNV). The latter is associated with certain altered histophysiological characteristics of the retinal pigment epithelium and BM. These changes are the risk factors for CNV. Currently, the identified major risk factors are drusen characteristics, calcification and disintegration of BM, focal macular hyperpigmentation of the RPE, and accumulation of polar phospholipids in BM. We analyzed the significance of those factors influencing CNV. The new vessels breach BM and spread in the subretinal pigment epithelium and subretinal space. Electron microscopy revealed the presence of leukocytes, fibrocytes, and macrophages as the predominant elements around the new vessels. The new vessels leak serum proteins, and this leads to the formation of disciform scars that cause photoreceptor cell death. Clinical management with antiangiogenic agents may prove beneficial in patients with CNV. It is also imperative to know about the detailed mechanisms of new vessel formation, the precise role of inflammatory cells, and crucial steps in CNV pathology (e.g., inflammation) that can be targeted in therapeutic management.

Ashy dermatosis (AD), lichen planus pigmentosus (LPP), erythema dyschromicum perstans (EDP), and idiopathic eruptive macular pigmentation are several acquired macular hyperpigmentation disorders of uncertain etiology described in literature. Most of the published studies on these disorders are not exactly comparable, as there are no clear definitions and different regions in the world describe similar conditions under different names. A consensus on the terminology of various morphologies of acquired macular pigmentation of uncertain etiology was a long-felt need. Several meetings of pigmentary disorders experts were held to address this problem. A consensus was reached after several meetings and collation of e-mailed questionnaire responses and e-mail communications among the authors of publications on the above conditions. This was achieved by a global consensus forum on AD, LPP, and EDP, established after the 22nd International Pigment Cell Conference held in Singapore in 2014. Thirty-nine experts representing 18 countries participated in the deliberations. The main focus of the deliberations was terminology of the conditions; as such, we present here the consensus statement of the forum and briefly review the available literature on the subject. We have not attempted to discuss treatment modalities in detail.

Incontinentia pigmenti (IP) is an X-linked dominant neurocutaneous syndrome with ophthalmologic, neurologic, cutaneous, and dental manifestations and in most cases antenatally lethal in boys. Occasionally, typical IP may occur in boys due to Klinefelter syndrome or a genomic mosaicism. Skin lesions are observed in 4 stages: blistering, verrucous linear plaques, swirling macular hyperpigmentation, followed by linear hypopigmentation that develop during adolescence and early adulthood. Neonatal herpes simplex virus (HSV) infection can be manifested in 3 forms: localized, disseminated, and central nervous system (CNS) involvement. Timely diagnosis and treatment of neonatal HSV infection is critical. In this case report, we present a 12-day female newborn with a history of maternal genital HSV in second trimester and vesicular lesions on the upper and lower limbs that was appeared at first hours of life. She was admitted in the maternity hospital that was born and was treated by antibiotic and acyclovir for 11 days. Then, she readmitted for her distributed vesicular lesions. The results of blood and CSF for HSV PCR were negative. Eventually the diagnosis for incontinentia pigmenti was made by consultation with a dermatologist, and skin biopsy confirmed the diagnosis.

The presentation of multiple cafe-au-lait macules (CALMs) in children is a common reason for referral to a dermatologist. Segmental CALMs, a subtype of CALMs, is usually limited to a specific part of the body. Mosaic neurofibromatosis type 1 (NF1; OMIM 162200) is a common congenital disorder associated with segmental CALMs with an incidence of about 1 case/40000 patients, which is lower than the prevalence of patients with germline NF1 mutations1,2 .

Ashy dermatosis is characterized by asymptomatic, symmetrically-distributed, gray-colored macules located on the trunk, neck, face, and upper extremities. The condition occurs most commonly in patients with Fitzpatrick phototype III-V skin. The etiology is unknown, but drug ingestion, infection, and genetic factors have been suggested to elicit ashy dermatosis. No gold standard treatments have been established yet. The most successful treatment to date has been clofazimine, although topical tacrolimus, oral dapsone, narrowband ultraviolet light B phototherapy, and isotretinoin have shown treatment success. Ashy dermatosis is primarily a cosmetic concern, but can be a very distressing condition, especially for dark skinned individuals. Therefore, an increase in clinician awareness and more studies are needed to further understand the etiology and treatment options for this disease. This review serves as a single source for clinicians to stay up-to-date regarding the history, clinical presentation, histology, pathogenesis, differential diagnosis, and management options for ashy dermatosis. It also suggests an alternative name that more appropriately encompasses the clinical and histopathologic features, while acknowledging our lack of understanding of its etiology: macular hyperpigmentation of indeterminate etiology.

Acquired dermal macular hyperpigmentation (ADMH) is an umbrella term that includes disorders clinically characterized by small and large pigmented macules/patches and histopathologically showing an evidence of current or resolved interface dermatitis with pigment incontinence, without clinically significant prior inflammatory phase. The term intends to include diseases previously described in the literature as lichen planus pigmentosus, Riehl's melanosis/pigmented cosmetic dermatitis and ashy dermatosis/erythema dyschromicum perstans. The nomenclature and origin of these disorders have always been a matter of discussion. These disorders share many clinicopathological similarities, are difficult to treat and adversely affect the quality of life. Recent consensus points towards the need for a unifying term to facilitate research and therapeutic trials. This article aims to provide a comprehensive review of the recent advances in ADMH.

Ashy dermatosis, erythema dyschromicum perstans, lichen planus pigmentosus and idiopathic eruptive macular pigmentation are various types of acquired macular hyperpigmentation disorders of the skin described in literature. However, a global consensus on the definitions of these entities is lacking. We report two cases of acquired macular (hyper)pigmentation of uncertain aetiology diagnosed as ashy dermatosis and attempt to clarify the various confusing nosologies based on existing literature. We infer that acquired small and large macular pigmentation of uncertain aetiology should be considered separate from that associated with lichen planus. We also propose a diagnostic algorithm for patients with acquired macular hyperpigmentation.

The diagnosis of pigmented lesions of the oral cavity and perioral tissues is challenging for the clinicians. The term orofacial pigmentation refers to a wide range of lesions and conditions, which change the color of the orofacial tissues. Even though some lesions may definitively be diagnosed on clinical grounds alone, the final diagnosis usually requires clinical, biochemical, and histopathologic evaluation. Clinical tests, such as diascopy and radiography, and laboratory investigations, such as blood tests, can be used to confirm a clinical impression and reach a definitive diagnosis. The oral cavity is the mirror of the body and is often the area where systemic diseases first present. Hereby, we are presenting a rare case of macular hyperpigmentation with lace-like pattern of oral cavity and macular hyperpigmentation of the face, skin, and palms, with a diagnosis of pigmentation due to iron-deficiency anemia.

Inherited epidermolysis bullosa (EB) comprises rare heterogeneous disorders characterized by cutaneous and mucosal fragility. Most of the 20 proteins affected have structural functions. Recently, a previously undescribed type of EB simplex (EBS), caused by gain-of-function mutations in KLHL24, encoding KLHL24 has been identified (He et al., 2016, Lin et al., 2016). This protein seems to be involved in protein ubiquitination. Patients carrying monoallelic mutations in the translation initiation codon of KLHL24 have a characteristic clinical phenotype, showing skin defects and blistering at birth and unusual stellate scarring, skin fragility, and whorled or macular hyperpigmentation or hypopigmentation in childhood (Figure 1a–e). Although skin fragility improves by adulthood, nail dystrophy, anetoderma, and hair loss may occur (Figure 1f–h).

The "chik sign" is considered to be one of the most common cutaneous features of chikungunya fever and has been considered unique to this disorder. It consists of brownish hyperpigmentation involving the nose. We report a case of a 3-year-old boy with dengue infection who presented with macular hyperpigmentation of nose simulating the chik sign. Hyperpigmentation is an unusual cutaneous manifestation in cases of dengue.

Background Acquired dermal macular hyperpigmentation (ADMH) is a hypernym encompassing Riehl's melanosis, lichen planus pigmentosus, and ashy dermatoses that show significant clinicopathological overlap. We sought to describe the dermatoscopic features of ADMH and correlate them with histopathological findings. Methods This was a prospective observational study performed in two phases. A detailed clinical and dermatoscopic examination was performed, and skin biopsies were obtained in 51 patients. Two dermatologists and a blinded dermatopathologist studied archived dermatoscopic images and histopathology specimens, respectively. Results Dermatoscopic features noted were (i) pigment structures; dots (82.4%), globules (66.7%) and blotches (56.9%) that spared the eccrine and hair follicle openings; (ii) telangiectasia (82.4%); (iii) accentuation of the normal pseudoreticular pigmentary network (33.3%); (iv) owl's eye structures (15.7%). Four dermatoscopic grades of disease severity were identified: grade 1 – dotted; grade 2 – Chinese letter; grade 3 – reticulate; and grade 4 – diffuse. Density of melanin incontinence on histopathology correlated positively with size of pigment structures (r = 0.7, P

Lichen planus pigmentosus is a pigmentary disorder of unknown etiology, with diffuse hyperpigmentation of sun-exposed areas, more commonly seen in some ethnic and racial groups. We report an unusual case of lichen planus pigmentosus in a 40-year-old man with Fizpatrick type III skin that was present in a blaschkoid distribution on the trunk, a distribution that has been rarely reported. This unique presentation of lichen planus pigmentosus may contribute to better understanding of the etiology, as the blaschkoid distribution may reflect underlying cutaneous mosaicism that renders those cells more susceptible to an insult that results in lichen planus pigmentosus. This disorder should be considered in the differential diagnosis of macular hyperpigmentation, especially in those from more commonly affected ethnic and racial groups, even when the distribution is atypical and in the absence of history of sun exposure.

Background and Objective: Lichen planus pigmentosus (LPP) is an uncommon variant of lichen planus (LP) that manifests as macular hyperpigmentation involving chiefly the face and upper limbs. Although its etiology has not been fully elucidated, a relationship with hepatitis C infection, restrictive underwear, localized friction, and sun exposure have been proposed. Rarely, exposure to mustard oil, amla oil, henna, or hair dyes has been reported. Conclusion: We herein describe an LPP-like reaction to Guasha.

Laugier-Hunziker syndrome (LHS) is an acquired, benign, macular hyperpigmentation of the lips and oral mucosa, often associated with pigmentation of the nails. Volar acral maculae on the palms and fingertips of patients affected by LHS are a typical feature of this rare entity. Dermoscopic examination of these maculae has been described in a previous report, in which authors found a parallel-furrow pattern. We describe two cases in which a parallel-ridge pattern (PRP) was found on the dermoscopic examination of the pigmented acral lesions. Histological examination showed increased melanin in basal keratinocytes, which was most prominent in those located at the crista intermedia profunda, that is, in the epidermal rete ridges underlying the surface ridges. In our study, dermoscopic features of the pigmented maculae found on LHS differed from those previously described. In addition, by means of this case report, the histological features of these lesions are described for the first time, showing an excellent correlation with dermoscopy. The reported cases prove that although the PRP is very specific of melanoma, it is also possible to find it in benign lesions. Therefore, we must be familiar with the differential diagnosis of PRP, and take into consideration the clinical context in which we find it. Further studies are needed to increase our knowledge on the histological and dermoscopic features of acral pigmented maculae of LHS.

Volar melanotic macules are asymptomatic, tan-brown to brownish-black macules found on the palms, fingers, soles, and/or toes of dark-skinned individuals and are infrequently reported in light-skinned individuals. Herein, we report the acquisition of multiple, brownish-black volar digital macules in a 63-year-old white woman and avid gardener that were noted after the onset of pruritic, chronic hand dermatitis over a 10-month period. She was healthy without any medical conditions or medications. No family history of intestinal polyposis or mucosal melanosis existed. At presentation, she had less than 20 brownish-black, 2- to 10-mm irregular macules over the volar aspect of the thumbs and index fingers, left greater than right hand, associated with erythema, scale, and a negative potassium hydroxide examination. In addition, she had melanotic macules of her lips, buccal mucosa, and conjuctiva. No nail or anogenital macules were found. Biopsy demonstrated a region of epidermal hyperplasia, hyperkeratosis, and interface dermatitis associated with melanophages and sparse lymphocytic infiltrate. Melanin staining revealed diffuse pan-epidermal hypermelanization, dermal melanin, and dendritic melanocytes, which expressed HMB-45. After 1-year follow-up and treatment with topical corticosteroid, the volar macules have faded to tan brown. Based on the location, avocation, and coexisting mucosal melanotic macules, an irritant phytodermatitis with postinflammatory hyperpigmentation was diagnosed in the setting of Laugier-Hunziker syndrome-a disorder denoted by macular hyperpigmentation of nail, volar, and/or mucosal surfaces in healthy adults. Volar melanotic macules can also complicate 5-flourouracil therapy, tinea pedis, and other inflammatory disorders; be associated with acral melanomas; or represent a cutaneous manifestation of systemic disease such as Addison disease, Peutz-Jegher syndrome, Leopard syndrome, Carney syndrome, AIDS, and neurofibromatosis.

Three siblings, two boys and one girl, presented with pigmentary abnormalities. The brothers, ages 11 and 6 years, had diffuse reticulate macular hyperpigmentation with onset in early childhood. In addition, these boys had hypohydrosis, coarse hair with an upswept frontal hairline, failure to thrive, and chronic pulmonary disease. The older boy also had corneal dystrophy and marked photophobia. A punch biopsy specimen from the 11-year-old showed melanophages and necrotic keratinocytes. Stains for amyloid were negative. The sister, age 2 years, had congenital linear hyperpigmented patches involving the intertrigenous areas, but was otherwise normal. The clinical findings of these children were consistent with X-linked reticulate pigmentary disorder with systemic manifestations. We present a summary of the clinical manifestations of this rare disorder and discuss efforts to identify the causative gene.

The Laugier-Hunziker-Baran syndrome represents a rare acquired pigmentary disorder of the lips, oral mucosa, and nails. We report two cases showing acquired, benign, macular hyperpigmentation of the buccal mucosa, lips, and fingers. The patients had no family history related to this condition and no history of gastrointestinal disorders or generalized skin disorders. Because of its clinical importance, Laugier-Hunziker-Baran syndrome should be included in the differential diagnosis of pigmentary disorders of the oral mucosa with associated nail involvement. It is particularly important to differentiate this condition from Peutz-Jeghers syndrome.

Laugier-Hunziker syndrome (LHS) is an acquired, benign, macular hyperpigmentation of the lips and oral mucosa, often associated with pigmentation of the nails. It is a rare disorder thought to be more common than the number of reported cases would suggest. It is important to include this condition in the differential diagnosis of diffuse oral pigmentation. Here we report the first case of the Laugier-Hunziker syndrome in Scandinavia. Other conditions causing diffuse or multifocal pigmented oral lesions are discussed.

Laugier-Hunziker syndrome is a rare acquired disorder characterized by macular hyperpigmentation of the oral and occasionally genital mucosa as well as longitudinal melanonychia. It is considered a benign condition without systemic manifestation or malignant potential. We report on a woman who concomitantly developed Laugier-Hunziker syndrome and a carcinoma of the pancreas.

While age-related macular degeneration (AMD) is a leading cause of central vision loss among the elderly, many inherited diseases that present earlier in life share features of AMD. These diseases of juvenile-onset macular degeneration include Stargardt disease, Best disease, retinitis pigmentosa, X-linked retinoschisis, and other allied disorders. In particular, they can be accompanied by the appearance of drusen, geographic atrophy, macular hyperpigmentation, choroidal neovascularization, and disciform scarring just as in AMD, and often may be confused for the adult form of the disease. Diagnosis based on funduscopic findings alone can be challenging. However, the use of diagnostic studies such as electroretinography, electrooculography, optical coherence tomography, and fundus autofluorescence in conjunction with genetic testing can lead to an accurate diagnosis.

Objective: A rare skin lesion, erythema ab igne (EAI) is presented, in an adolescent female with anorexia nervosa. Method: Clinical records of this patient were compared with a pubmed search about EAI in patients with an eating disorder. Results: The patient presented with localized, spider-like, erythematous and hyperpigmented skin lesions on the lower abdomen and on both thighs. Repetitive exposure to heating pads can induce reticular and macular hyperpigmentation with telangiectases without squamation. Strict avoidance of heat is advised, because there is no effective treatment. Discussion: EAI is described in patients with an eating disorder. Facing an increased pain threshold, prolonged heat exposure to treat a general feeling of cold, can induce this dermatosis. © 2012 by Wiley Periodicals, Inc. (Int J Eat Disord 2013)

Cryotherapy for retinopathy of prematurity (ROP) is effective in reducing the incidence of blindness in premature infants. However, macular complications associated with successful treatment have not yet been well studied.Eighteen very low birth-weight (1,251 g) infants (32 eyes) who received cryotherapy for ROP were examined serially for regression of disease and for development of macular abnormalities. Patient characteristics and treatment factors were evaluated to identify risk factors associated with the development of macular abnormalities after successful cryotherapy.Eleven of 32 eyes (34.4%) that had undergone cryotherapy developed significant macular abnormalities, including macular coloboma-like change (six eyes), macular hyperpigmentation (two eyes), irregularly mottled macular hyperpigmentation and hypopigmentation (two eyes), and macular hyperpigmentation and hypopigmentation with subretinal proliferation (one eye). Corrected visual acuity in affected eyes ranged from 0.15 to 0.03 (20/133 to 20/666) compared with 1.0 to 0.2 (20/20 to 20/100) in treated eyes without macular abnormality (P = .0002). No difference in gestational age was noted between infants who did or did not develop macular coloboma-like lesions or pigment abnormalities. Eyes with macular abnormality had more posterior disease (P = .037) and received significantly more cryotherapy than did eyes without macular abnormality (P = .0005).In very low birth-weight infants receiving cryotherapy for ROP, development of macular coloboma-like lesions and macular pigment abnormalities were related to greater severity of ROP and a greater amount of cryotherapy. Macular abnormalities were associated with markedly worse visual outcomes than were treated eyes without macular abnormality.

Purpose To show the clinical evolution of a child with RDH12 mutation (gene typically associated with Leber Congenital Amaurosis,LCA) and early-onset retinal degeneration Methods A 8-year-old male who came to our department with a complaint of progressive decline in vision in his both eyes. Full clinical ophthalmological examination, including Best Corrected Visual Acuity (BCVA), anterior and posterior segment examination, Optical Coherence Tomography (OCT), color vision test, visual field, electrorretinogram and genetic study, was performed. Results At first visit, BCVA was 10/100 in both eyes. Anterior segment examination was unremarkable. Fundus eye examination revealed a bilateral and symmetric pattern of macular hyperpigmentation (of three disk diameters in size)with reticular configuration and patches of hypopigmentation between hyperpigmentated areas. No peripheral atrophy with bone spicule nor optic nerve atrophy were observed. OCT showed an intense macular atrophy with severe disruption of complex pigment retinal epithelium-photoreceptors. Farnsworth Munsell 28-hue test revealed preserved color vision. Visual field showed a central scotoma. Electrorretinogram recordings demonstrated a still preserved rod and cone function. Genetic study revealed a compound heterocigotic mutation for RDH12 in exon 6 (p.Ala269fs and p.Arg234His). Two years later VA decreased to

PURPOSE Macular hyperpigmentation is associated with progression from intermediate to advanced age-related macular degeneration (AMD). The purpose of this study was to accurately correlate hyperpigmentary changes with spectral domain optical coherence tomography (SDOCT) hyperreflective foci in eyes with non-advanced AMD. METHODS A prospective cross-sectional analysis of 314 eyes (314 subjects) with intermediate AMD was performed in the multicenter Age-Related Eye Disease Study 2 (AREDS2) Ancillary SDOCT Study to correlate hyperpigmentary changes on color fundus photographs (CFP) with abnormal morphology on SDOCT. Spatial coregistration was performed with an automated algorithm in two nonoverlapping subsets of 20 study eyes, which permitted double-masked CFP and SDOCT grading by certified investigators. RESULTS Macular CFP hyperpigmentation was significantly associated with SDOCT intraretinal hyperreflective foci in the 314 study eyes (P < 0.001). In a substudy of 40 eyes, automated intermodality spatial coregistration was successfully achieved in all 136 (100%) retinal regions selected for CFP and SDOCT grading. In one subset of 20 study eyes, 28 of 39 (71.8%) retinal CFP regions with hyperpigmentation were correlated with focal hyperreflectivity on SDOCT, versus seven of 39 (17.9%) control regions (P < 0.001). In another subset of 20 eyes, 21 of 29 (72.4%) SDOCT regions with hyperreflective foci were correlated with hyperpigmentary changes on CFP, versus two of 29 (6.9%) control regions (P < 0.001). CONCLUSIONS A novel algorithm achieves automated intermodality spatial coregistration for masked grading of regions selected on CFP and SDOCT. In intermediate AMD, macular hyperpigmentation has high spatial correlation to SDOCT hyperreflective foci and often represents the same anatomical lesion. (ClinicalTrials.gov number, NCT00734487.).

Purpose LCHAD deficiency is an autosomal recessive inheritance metabolic disorder associated with myopathy, cardiomyopathy, hypoglycaemia, neuropathy and retinal changes as retinitis pigmentosa. It is also related to sudden death. The purpose of this study is to present a case of LCHAD deficiency associated with retinal pigmentary changes. Methods A 3 year-olds children diagnosed of LCHAD deficiency was examined. Parents were consanguineous. He had several hospitalizations related to hypotonia and lethargia. Results Fundoscopy examination showed a retinal dystrophy with macular hyperpigmentation and pigmented aggregations and hypopigmentation changes. Both parents and one brother were examined showing no changes in their retinal aspect. Conclusion Retinal dystrophy in children can be related to metabolic disorders. LCHAD deficiency should always be discarded.

Several patterns of cutaneous hyperpigmentation in patients receiving the multikinase inhibitor vandetanib (ZD6474) were recently described.1 We describe a patient with perifollicular dark blue-gray macular hyperpigmentation secondary to vandetanib who was successfully treated with 755 nm Q-switched alexandrite laser. Report of a Case. A 38 year old patient with Fitzpatrick Type II skin and Von Hippel-Lindau syndrome with associated clear cell renal cell carcinoma enrolled onto a phase 2 study and received once-daily oral vandetanib for treatment of her renal tumors. Within two weeks of initiating treatment, the patient developed an acneiform eruption of scattered erythematous papules and pustules on the face and trunk. After 7 months, the patient also developed multiple perifollicular 1-2 mm slate blue macules on the forehead, cheeks, neck and conchal bowls at sites of existing scars and vandetanib-induced acneiform lesions (Figure 1a). She was treated with doxycycline (100 mg twice daily) and strict photoprotection. Her acneiform lesions improved significantly on doxycycline but recurred when she discontinued therapy. FIGURE 1 Vandetanib-associated perifollicular blue-gray macules. A, Scattered on forehead prior to laser treatment. B, Decreased macules on the forehead after four laser treatments. The patient was offered treatment with monthly Q-switched alexandrite laser therapy to address the blue facial pigmentation. A test region on the patient’s forehead was treated with the 755 nm Q-switched alexandrite laser using the following settings: 7.5 J/cm2, 3 mm collimated spot size and 50-ns pulse duration with demonstrable lightening of the blue macules. The entire face was treated on subsequent visits with marked improvement (Figure 1b). After four monthly sessions, the treatments were temporarily discontinued, and the blue hyperpigmentation returned. The patient remains on therapy with vandetanib approximately 22 months following enrollment on protocol.

Laugier-Hunziker syndrome (LHS) is a rare acquired disorder characterized by diffuse macular hyperpigmentation of the oral mucosa and, at times, longitudinal melanonychia. Although LHS is considered a benign disease with no systemic manifestations or malignant potential, it is important to rule out other mucocutaneous pigmentary disorders that do require medical management. Prompt clinical recognition also averts the need for excessive and invasive procedures and treatments. To date, only four cases have been reported in the United States. We present a 77-year-old man who had clinical features typical of LHS and we then provide a review of the literature on LHS and its mimickers.

Linear and whorled nevoid hypermelanosis (LWNH) is a pigmentation disorder characterized by macular hyperpigmentation following the lines of Blaschko. Dermatoscopy can be used in the differential diagnosis of this pigmentation disorder. To our knowledge, the dermatoscopic features of pigmented lesions in LWNH have not been described previously. Here, a case of LWNH is discussed together with its dermatoscopic findings. An 11-year-old girl presented to our department with hyperpigmentation along the lines of Blaschko over the entire body. The mental status of the patient was normal and no associated anomaly was detected in the physical examination or genetic analysis. Dermatologic examination revealed a whorled-like configuration of hyperpigmented macules on the neck, trunk, and buttocks, and a linear configuration of hyperpigmented macules, some of which were arranged in a parallel linear fashion on the extremities along the lines of Blaschko. Histopathologic examination confirmed the diagnosis. Dermatoscopic examination revealed linear or circular arrangement of streak-like pigmentations arranged in a parallel manner. This is the first known reported case of LWNH that describes its dermatoscopic findings. Dermatoscopy may be used to facilitate the differential diagnosis of melanotic lesions of this pigmentation disorder.

Linear and whorled nevoid hypermelanosis is a sporadic pigmentary anomaly occurring within the first weeks of life, characterized clinically by swirls and streaks of macular hyperpigmentation following the lines of Blaschko. Histologically it shows only epidermal melanosis. Underlying chromosomal mosaicism has been demonstrated in only a few published cases. Progressive cribriform and zosteriform hyperpigmentation is considered to be the localized variant of linear and whorled nevoid hypermelanosis. We report a retrospective study on 16 children referred consecutively over a 10-year period for evaluation of segmental, linear or swirled hyperpigmentation distributed along the lines of Blashko, consistent with a diagnosis of linear and whorled nevoid hypermelanosis. Associated abnormalities were found only in one out of six patients with the diffuse form (linear and whorled nevoid hypermelanosis-type) and in none of the remaining 10 children presenting the unilateral form (progressive cribriform and zosteriform hyperpigmentation-type). A long-term follow-up did not disclose further abnormalities. The authors discuss the nosologic position of this entity with respect to hypomelanosis of Ito. Linear and whorled nevoid hypermelanosis and hypomelanosis of Ito should be not considered single entities, but be rather grouped as a heterogeneous collection of nonspecific pigmentary disorders caused by genetic mosaicism. Skin findings in these diseases can differ according to the pigmentation in the normal cell line and whether the second line contains more or less melanosomes than the normal skin of the individual exhibiting mosaicism.

WOS: 000246477300010, PubMed ID: 17515514, Background: Laugier-Hunziker syndrome (LHS) is a rare, acquired mucocutaneous hyperpigmentation often associated with longitudinal melanonychia. The clinical behavior of mucocutaneous pigmented lesions ranges from benign to highly malignant. Therefore, in most cases, the clinical diagnosis should be confirmed by further diagnostic methods. Dermoscopy is a noninvasive technique that has been used to make more accurate diagnoses of pigmented skin lesions. Nevertheless, to our knowledge, the dermoscopic features of the pigmented lesions in LHS have not been described previously. Herein, we report a case of LHS together with its dermoscopic features. Observations: The clinical examination revealed macular hyperpigmentation on the oral and genital mucosa, conjunctiva, and palmoplantar region together with longitudinal melanonychia. Dermoscopic examination of mucosal lesions on the patient's lips and vulva revealed a parallel pattern. Longitudinal homogeneous pigmentation was observed on the toenails. The pigmented macules on the palms and the sole showed a parallel furrow pattern. A skin biopsy sample taken from the labial lesion was compatible with a diagnosis of mucosal melanosis. Conclusions: By means of this case report, the dermoscopic features of the pigmented lesions in LHS are described for the first time, which facilitates diagnosis with a noninvasive technique. Future reports highlighting the dermoscopic features of this syndrome may simplify the diagnosis of LHS, which is thought to be underdiagnosed.

A 32-year-old woman presented with a long history of pruritic eruption on her anterior shins (Figures ​(Figures11 and ​22). What is your diagnosis? Figure 1 Macular hyperpigmentation on the anterior shins. Figure 2 Closer view of macular hyperpigmentation demonstrating a rippled distribution. DIAGNOSIS: Primary localized cutaneous amyloidosis.