Patterned cutaneous hypopigmentation phenotype characterization: A retrospective study in 106 children.

BACKGROUND: Cutaneous patterned hypopigmentation's phenotype is highly variable and may be associated with extracutaneous anomalies. OBJECTIVE: We evaluated the phenotypic and clinical characteristics of patients with cutaneous patterned hypopigmentation to determine whether certain patterns were more likely to be associated with underlying anomalies. METHODS: The charts of 106 children with cutaneous patterned hypopigmentation were reviewed retrospectively (2007-2018) at Sainte-Justine University Hospital Centre, in Montreal, Canada. Retrieved information included sex, age at diagnosis, phototype, pattern, and distribution of the cutaneous lesions and the presence of extracutaneous findings. Data were recorded on a software tool which collects and analyzes phenotypic information. RESULTS: The predominant types of cutaneous patterned hypopigmentation were along Blaschko's lines in narrow (38.7%) and broad bands (53.8%). Mixed patterns were observed in 22.5% of children. The anterior trunk and posterior trunk were most frequently affected (69% and 56%, respectively). Extracutaneous involvement, especially neurological and developmental, was present in 28.3% of patients and was significantly associated with ≥ 4 involved body sites. CONCLUSION: Distribution and types of cutaneous patterned hypopigmentation were not predictive of extracutaneous findings, with the exception of multiple sites involvement and possibly centrofacial location and blocklike lesions. Follow-up until school entry should help identify subtler associated extracutaneous anomalies.

Congenital nevi with hypomelanosis and fine scales.

BACKGROUND: Nevus is a hamartoma or malformation of one or more skin components, resulting in aberrant differentiation of the cell lineage(s) mostly during developmental stages. Although multiple lineages may be involved in a nevus, the combination of melanocyte and keratinocyte abnormalities has been rarely discussed. OBJECTIVES: To present two cases of congenital nevi with hypomelanosis and superficial fine scales. MATERIALS & METHODS: Skin specimens of the patients were analysed by immunohistochemistry and electron microscopy. RESULTS: Morphological and immunohistochemical studies indicated aberrant epidermal differentiation in the lesional skin specimens. Electron microscopy showed defective melanosome maturation in the melanocytes of the nevi samples. CONCLUSION: These results demonstrate that both epidermal and melanocytic lineages can concomitantly contribute to the formation of a nevus lesion.

[Multiple hypochromic or achromic macules in children and risk of tuberous sclerosis]. / Macules hypochromiques ou achromiques multiples de l'enfant et risque de sclérose tubéreuse de Bourneville.

AIM: To describe in a large paediatric cohort the characteristics of hypopigmented and depigmented (hypochromatic and achromic) macules with no clear diagnosis but potentially evocative of tuberous sclerosis (TS). PATIENTS AND METHODS: This was a retrospective multicentre study performed between 2010 and 2017 at a reference centre for rare skin diseases; it included all children consulting for hypochromic and achromic macules. A descriptive analysis was made of the characteristics of macules with no clear diagnosis, enabling them to be classified in three secondary groups: TS certain, TS ruled out, TS uncertain. RESULTS: Of the 3300 children seen during this 7-year period 7,265 were consulting for hypochromic or achromic macules, with no clear diagnosis in 18 cases: 7 girls and 11 boys of median age at 7.21 years (range: 4 months to 16 years and 7 months). The lesions were congenital in 7 cases. The number of macules varied, with over 20 in some cases. The majority were in the form of ash-leaf spots, followed by the oval form. Two children were diagnosed at clinical examination, and 16 underwent it is not examinations, resulting in a diagnosis of certain ST in 6 of these cases. No particular characteristics of the macules appeared to guide the clinical examination towards ST or isolated lesions. Café-au-lait spots were more frequent in the group in which ST was ruled out than in the other two groups: 67% vs. 33% and 33%. Neurologic involvement was more common in children with certain or uncertain ST than in children in whom ST was ruled out (83% and 67% vs. 11%). CONCLUSION: No identified characteristics of stains enabled the clinical examination to confirm or rule out tuberous sclerosis. Screening for acute any signs of ST is essential. Diagnostic efficacy is enhanced by additional exams.

Congenital isolated leukonychia.

Congenital leukonychia is a rare nail disorder that may occur in isolation or in association with a number of syndromic disorders. In the following letter, we describe a case of isolated congenital true leukonychia to add to the current literature. This case is particularly unique in that it does not appear to be inherited in an autosomal dominant fashion, in contrast to the majority of reported cases.

The complete mitochondrial genome of Boeseman's rainbowfish (Melanotaenia boesemani Allen & Cross, 1980).

In this study, the mitochondrial genome of Melanotaenia boesemani (Allen & Cross, 1980 ) (Atheriniformes: Melanotaeniidae) was sequenced for the first time. The assembled mitogenome consisting of 16 493 bp, includes 13 protein-coding genes, 22 transfer RNAs, 2 ribosomal RNAs genes and 1 putative control region. The overall base composition of M. boesemani is 27.88% for A, 29.92% for C, 15.74% for G, 26.47% for T and shows 96% identities to Lake Kutubu rainbowfish, Melanotaenia lacustris. These data would provide useful molecular information for phylogenetic relationships within the family Melanotaeniidae species.

A case and review of congenital leukonychia.

Leukonychia refers to a white discoloration of the nails. Although several conditions may cause white nails, a rare, isolated, congenital form of the disease is hypothesized to stem from disordered keratinization of the nail plate. Herein, we report a case of a 41-year-old woman with congenital leukonychia and review prior cases.

Nevus anemicus associated with neurofibromatosis type 1 in a neonate: a case report.

Neurofibromatosis type 1 (NF1) is a multisystemic autosomal dominant disease affecting approximately 1 individual in 3500. The diagnostic criteria developed by NIH in 1988 allow unequivocal diagnosis in all cases but the youngest children. Due to the variable phenotypic expression, the diagnosis of NF1 in the youngest may be challenging, particularly when the distinctive cutaneous lesions are missing. We describe the case of a neonate who presented at birth solely with a nevus anemicus. Although this is not considered a diagnostic feature, given the presence of a few café au lait lesions in the patient's father, the genetic test was performed and the diagnosis of NF1 confirmed. To our knowledge, the association between nevus anemicus and NF1 is only anedoctal. The peculiarity clinical manifestation of this case highlights the high variable expressivity of the NF1 gene mutation and reinforces the importance of genetic counseling in affected individuals.

[Leucoderma in children: Review of the literature]. / Leucodermies chez l'enfant : revue de la littérature.

BACKGROUND: Leucoderma is a frequent presenting complaint in children and it is sometimes difficult to make a definite diagnostic during the first consultation. The aim of this study is to analyse the diagnoses associated with leucoderma in children in order to propose a practical approach to their differential diagnosis. MATERIAL AND METHODS: We performed a review of the literature using the keywords "leucoderma children review", "leucoderma Ito" and "nevus depigmentosus" in the Medline database. All relevant articles were included. RESULTS: Four hundred and thirty-five articles were retrieved and 179 were analysed. A clinical approach was proposed in 6 articles and investigations in 15 articles. DISCUSSION: Causal diagnosis of leucoderma may frequently be made on clinical grounds by determining the age of onset and distribution of lesions. Nevertheless, some situations require investigation. The literature is limited regarding clinical approaches and examinations in leucoderma. Herein, we present a systematic clinical and laboratory approach to the differential diagnosis of these skin disorders.

Congenital self-healing reticulohistiocytosis presented with multiple hypopigmented flat-topped papules: a case report and review of literatures.

Congenital self-healing reticulohistiocytosis, also known as Hashimoto-Pritzker disease, is a single system Langerhans cell histiocytosis that typically presents in healthy newborns and spontaneously regresses. In the present report, we described a 2-month-old Thai female newborn with multiple hypopigmented flat-topped papules without any internal organ involvement including normal blood cell count, urinary examination, liver and renal functions, bone scan, chest X-ray, abdominal ultrasound, and bone marrow biopsy. The histopathology revealed typical findings of Langerhans cell histiocytosis, which was confirmed by the immunohistochemical staining CDla and S100. Our patient's lesions had spontaneously regressed within afew months, and no new lesion recurred afterfour months follow-up.

[Hypomelanoses transmitted from generation to generation]. / Hipomelanozy przekazywane z pokolenia na pokolenie.

Inherited diseases of pigmentation were among the first traits studied in humans because of their easy recognition. This article presents selected hypopigmentary disorders, which can be divided into hypomelanocytoses and hypomelanoses. Hereditary hypomelanoses are caused by abnormal melanin biosynthesis as well as by abnormal transfer of mature melanosomes to melanocyte dendrites and to neighboring cells. These disorders are represented by oculocutaneous albinism, Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, Griscelli syndrome, Menkes syndrome and phenylketonuria, and are caused by different mutations of the following genes: TYR, P, TRP1, MATP, HPS, CHS, MYO5A, RAB27A, MLPH, ATP7A and PAH. Oculocutaneous albinism is caused by a deficiency of melanin pigment in the skin, hair, and eye and results from mutations in the TYR, P, TRP1 and MATP genes involved in the biosynthesis of melanin pigment. Mutations in the HPS, CHS, MYO5A, RAB27A and MLPH genes, which regulate the biogenesis, maturation and transfer of me-lanosomes to neighboring cells, are responsible for such disorders as Hermansky-Pudlak, Chediak-Higashi and Griscelli syndromes. In turn, mutations of the ATP7A and PAH genes, regulating intracellular copper concentration and activity of phenylalanine hydroxylase, lead to Menkes syndrome and phenylketonuria.

The expanding clinical spectrum of torpedo maculopathy.

PURPOSE: Torpedo maculopathy is an idiopathic, congenital, oval-shaped region of chorioretinal hypopigmentation located temporal to the macula. Torpedo lesions are typically unilateral, occasionally harbor an intraretinal cleft, and may be associated with varying degrees of hyperpigmentation. Visual acuity is usually normal, but the lesion may produce a scotoma in the visual field. There are no known associated systemic or ocular abnormalities. Diagnosis is based upon recognition of its characteristic shape and location. Because of its nonprogressive and generally benign nature, no treatment is required. CASE REPORTS: Two cases of torpedo maculopathy associated with fundus excavation are presented. To the best of our knowledge, this is the first reported association of torpedo maculopathy with fundus excavation. In one case, the visual acuity remained unaffected and in the other case the visual acuity was reduced to 20/50. In both cases, optical coherence tomography clearly demonstrates the excavated nature of the torpedo lesions. In case 1, where the visual acuity was normal, the excavation is remote from the fovea but in case 2, where the visual acuity was 20/50, the excavation encroaches upon the fovea. In both cases, a scotoma corresponding to the excavated region could be demonstrated. CONCLUSIONS: Torpedo maculopathy is a usually benign condition associated with normal visual acuity and normal visual fields. Our cases demonstrate that torpedo maculopathy may be associated with excavation of the fundus and a corresponding scotoma in the visual field. Visual acuity may be compromised should the excavation encroach upon the central fovea. Knowledge of this previously unreported clinical manifestation of torpedo maculopathy may aid in advancing the understanding of this condition and the care of patients with the disorder.

A case report of torpedo maculopathy in an African boy.

We describe a case report of torpedo maculopathy in a young African boy. Ophthalmic examination revealed normal visual acuity and a characteristic unilateral retinal lesion with the typical appearance on ocular coherence tomographic imaging, fluorescein angiography, and visual fields testing.

Complex malformation (Ruggieri-Happle) phenotype with "cutis tricolor" in a 10-year-old girl.

The term cutis tricolor describes the combination of congenital hyper- and hypo-pigmented skin lesions in close proximity to each other in a background of normal complexion. It is currently regarded as a twin-spotting phenomenon and today is clear that not all cases of cutis tricolor represent one single entity. This phenomenon has been reported so far: (a) as an isolated skin manifestation; (b) as a part of a complex malformation syndrome (Ruggieri-Happle syndrome - RHS); (c) as a distinct phenotype [cutis tricolor parvimaculata]; (d) in association with other (e.g., vascular) skin disturbances. We report a novel case of cutis tricolor in a 10-year-old girl who had dysmorphic facial features [alike those seen in cases with syndromic (RHS) cutis tricolor], overall overgrowth [weight, length, and head circumference were >90th percentile; there was increased bone age], mild cognitive delay (current IQ=55), behavioural disturbances, febrile seizures and (later) partial complex epilepsy (currently under good control), and skeletal defects [i.e., posterior scalloping of the lumbar vertebrae]. We discuss the main similarities and differences between the various phenotypes in the spectrum of cutis tricolor and with other conditions sharing features with the present case.

Desmoplastic hypopigmented hairless nevus: a variant with progressive depigmentation, induration, and overgrowth.

Large congenital melanocytic nevus rarely presents itself without hairs, with hardened skin and progressive depigmentation. We report a girl who presented with a large congenital melanocytic nevus in the left cheek. Over the years, the nevus became pruriginous, light brown, bumpy, and hard. Histology revealed nevus cells interspersed with dense fibrosclerotic collagen bundles. There are few reported cases of large congenital melanocytic nevus with this evolution, so-called desmoplastic hypopigmented hairless nevus.

Intrauterine herpes simplex virus infection presenting with hypopigmented lesions.

Genital herpes simplex virus (HSV) is a sexually transmitted infection that can be transmitted from mother to child in utero, perinatally, or postnatally. Cutaneous infection with HSV commonly presents as vesicles affecting the skin, eyes, or mouth. In our case, we report a well child with cutaneous hypopigmented patches at birth that preceded typical blistering.

Screening of TYR, OCA2, GPR143, and MC1R in patients with congenital nystagmus, macular hypoplasia, and fundus hypopigmentation indicating albinism.

BACKGROUND: A broad spectrum of pigmentation of the skin and hair is found among patients diagnosed with ocular albinism (OA) and oculocutaneous albinism (OCA). Even though complexion is variable, three ocular features, i.e., hypopigmentation of the fundus, hypoplasia of the macula, and nystagmus, are classical pathological findings in these patients. We screened 172 index patients with a clinical diagnosis of OA or OCA based on the classical findings, to evaluate the frequency of sequence variants in tyrosinase (TYR), P-gene, P-protein (OCA2), and the G-protein-coupled receptor 143 gene, OA1 (GPR143). In addition, we investigated the association of sequence variants in the melanocortin receptor 1 gene (MC1R) and OCA2. METHODS: Pigmentation of the hair, skin, iris, and fundus were included in the evaluation of OCA and OA. Male OA patients showing X-linked inheritance were screened for GPR143. Females showing OA without family history were regarded as representing autosomal recessive OA (OA3). Direct sequencing was applied to PCR products showing aberrant single-strand conformation polymorphism-banding patterns. RESULTS: Fifty-seven male index patients were screened for OA. We identified 16 potentially pathogenic sequence variations in GPR143 (10 novel) in 22 males. In TYR, we identified 23 (7 novel), and in OCA2 28 (11 novel) possibly pathogenic variants. Variants on both alleles were identified in TYR or OCA2 in 29/79 OCA patients and 14/71 OA patients. Sequence changes in TYR were identified almost exclusively in OCA patients, while sequence changes in OCA2 occurred in OCA and OA patients. MC1R sequencing was performed in 47 patients carrying mutations in OCA2 and revealed MC1R mutations in 42 of them. CONCLUSIONS: TYR gene mutations have a more severe effect on pigmentation than mutations in OCA2 and the GPR143 gene. Nevertheless, mutations in these genes affect the development of visual function either directly or by interaction with other genes like MC1R, which can be deduced from a frequent association of MC1R variants with p.R305W or p.R419Q in OCA2.

Congenital isolated leukonychia totalis in three Egyptian sibs.

Isolated leukonychia totalis is a rare condition of nails with mainly an autosomal dominant pattern of inheritance. In this report, we present three sibs (a sister and two brothers) with isolated congenital leukonychia totalis, without any manifestation among parents and other family members. The sibs had similar facial features and were offspring of consanguineous Egyptian parents. We discussed possible mechanisms of inheritance and suggested an autosomal recessive mode of transmission.