Pigmentary lines of the newborn: a case report and review of the literature.

Various diseases of pigmentation in the newborn are known, such as congenital or acquired linear hyperpigmentation. Pigmentary lines of the newborn are counted among the transient benign cutaneous lesions in the newborn and appear to be rather rare. This paper reports on a newborn with pigmentary lines in the creases of the abdomen. The 5-month-old boy is the first case observed so far in the University Hospital of Basel in Switzerland. He was born at term and healthy, without any congenital abnormalities. The horizontally arranged linear hyperpigmentation appeared shortly after birth and faded spontaneously after 5 months. Pigmentary lines of the newborn are rare and the non-hormonal cause may be flexion in utero or other mechanically induced stimulation. So far, only eight similar cases have been reported, which are listed in a table.

Familial progressive hypermelanosis in Indian monozygotic twins.

Familial hyperpigmentation, or melanosis universalis hereditaria, is a rare hyperpigmentary disorder with onset in infancy. Here, we describe monozygotic twins with similar pattern of progressive hyperpigmentation with onset in early neonatal period without any family history. Histopathological examination showed increased melanin throughout the epidermis. Although hereditary defects may influence melanogenesis resulting in a pigmentary anomaly, the pathogenesis of hyperpigmentation in this case remains unclear.

CLOVE syndrome with nevus unis lateris: report of a case.

Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE) syndrome is a recently described syndrome similar to Proteus syndrome but lacking the progressive or distorting bony overgrowth of Proteus syndrome. We describe a neonate with features of CLOVE syndrome and nevus unius lateris.

Hypermelanoses of the newborn and of the infant.

This article discusses hypermelanoses present at birth or appearing in the first months of life. They may be transient or permanent, localized - as in café-au-lait spots - or segmental, or more rarely, complex or generalized. In most pigmentary diseases, physical examination, including Wood's lamp examination and a detailed history, is usually sufficient. Time of onset, distribution pattern, and associated clinical and sometimes histopathologic findings are helpful in differentiating these disorders. Recently, molecular diagnosis has become available for some rare entities, such as hereditary symmetrical dyschromatoses, but the bulk of nevoid lesions are not understood at the molecular level.

Congenital curvilinear palpable hyperpigmentation.

We report two cases of congenital curvilinear palpable hyperpigmentation on the posterior aspect of bilateral legs in male infants. These lesions appeared shortly after birth and mimicked child abuse with looped cord or postinflammatory hyperpigmentation. Histopathologic features showed lentiginous melanocytic hyperplasia. One of the boys also had severe global developmental delay with abnormal findings from magnetic resonance imaging of the brain. We believe that these lesions represent a new type of congenital hyperpigmentation that we termed "congenital curvilinear palpable hyperpigmentation." Although these lesions do not follow the lines of Blaschko, they may also be associated with neurologic and developmental abnormalities.

Fatal interstitial pulmonary disease in a patient with dyskeratosis congenita after allogeneic bone marrow transplantation.

Chronic restrictive lung disease in a 9-year-old boy with dyskeratosis congenita (DC) 7 years after allogeneic bone marrow transplantation (BMT) is described. When he was 1 year and 10 months old, severe aplastic anemia developed. He received a marrow transplant from his HLA serologically identical, but HLA-DP mismatched brother. He developed grade II acute graft-versus-host disease (GVHD) and thereafter chronic GVHD of progressive type, and was treated with both prednisolone and azathioprine resulting in clinical improvement. Thereafter he complained of dyspnea, and bilateral noncircumscribed interstitial shadows on chest CT scan were present. His pulmonary function showed restrictive changes. Prednisolone was not effective and he died of respiratory failure. Post-mortem examination confirmed interstitial fibrosis, lymphocytic infiltration of the bronchioles and alveoli with luminal fibrosis. There was no evidence of chronic GVHD in the skin and the liver. These findings raise the possibility that this pulmonary complication was associated with DC itself.

Analysis of 54 cases of hypopigmentation and hyperpigmentation along the lines of Blaschko.

OBJECTIVE: To define the spectrum of disease in cases of hypopigmentation and hyperpigmentation along the lines of Blaschko more accurately. Pigmentary anomalies along the lines of Blaschko, including hypomelanosis of Ito, linear and whorled nevoid hypermelanosis, and nevus depigmentosus, can be associated with notable abnormal systemic features. We believe that the incidence of associated abnormal features described in previous studies is exaggerated owing to referral and reporting bias. DESIGN: Retrospective review of case series. SETTING: An ambulatory, university hospital, pediatric dermatology practice and a large, city hospital, pediatric dermatology clinic. PATIENTS: Fifty-four children referred consecutively over a 5-year period for evaluation of segmental, linear, or swirled hypopigmentation and/or hyperpigmentation along the lines of Blaschko. MAIN OUTCOME MEASURE: Incidence of associated abnormal systemic features. RESULTS: Extracutaneous abnormal features were present in 16 (30%) of 54 children with aberrant pigmentation along the lines of Blaschko: in 9 (33%) of 27 with hypomelanosis of Ito, in 4 (31%) of 13 with linear and whorled nevoid hypermelanosis, in 1 (11%) of 9 with nevus depigmentosus, and in 2 (40%) of 5 with coexistent hypopigmentation and hyperpigmentation. CONCLUSIONS: Pigmentary anomalies along the lines of Blaschko are associated with abnormal systemic features far less often than has been reported previously. These pigmentary anomalies should not be considered distinct syndromes but rather grouped as a heterogeneous collection of disorders indicative of underlying genetic mosaicism. Such a classification will allow better understanding and evaluation of affected persons.

Linear hypopigmentation and hyperpigmentation, including mosaicism.

Linear streaks of hypopigmentation or hyperpigmentation along Blaschko's lines are currently grouped under the names hypomelanosis of Ito (HI) and linear and whorled hypermelanosis (LWH). Recent studies have suggested that these linear pigmentary anomalies reflect underlying genetic mosaicism. Mosaic individuals are composed of two or more genetically distinct cell populations, a normal and an abnormal population. In HI and LWH, the types of genetic defects that are detectable in the abnormal population are highly variable, including tetraploidy, partial or complete trisomies, translocations, and point mutations. These results, together with recent studies indicating the incidence of extracutaneous anomalies is lower in HI but higher in LWH than previously estimated, have important clinical implications. The need for a revised nomenclature as well as possible modifications in current recommendations for patient management are discussed.

Oral squamous cell carcinoma in a case of dyskeratosis congenita.

Oral manifestations of dyskeratosis congenita (DCG) have received little attention in dental literature. This report is a case of dyskeratosis congenita in a 17-year-old female which was associated with oral lesions such as leukoplakia, superimposed candidal infection, desquamative gingivitis, and severe periodontitis. Histopathologic examination of the granular lesion on the right lateral border of the dorsum of the tongue showed well-differentiated squamous cell carcinoma. Etiopathogenesis, clinical features, and laboratory findings of this disease are discussed.

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.

Case of congenital esophageal stricture by ganglioneuroma and acro-flexural hyperpigmentation: a coincidence?

Congenital hyperpigmentation in the acro-genital area and simultaneous occurrence of ganglioneuroma in the esophagus have yet to be reported. Herein, we report a 4-month-old girl presenting with feeding difficulty by esophageal ganglioneuroma and symmetrically distributed brown pigmented patches on the lips, axillae, dorsa of fingers and toes, and genital area. Although the esophageal stricture was resolved by surgical removal of ganglioneuroma, her skin manifestations remained for over 2 years.

The clinical profile of children in India with pigmentary anomalies along the lines of Blaschko and central nervous system manifestations.

The aim of this study was to describe the clinical profile of children with congenital pigmentary anomalies along Blaschko lines and the associated manifestations in the central nervous system. Twenty-six children aged 12 years or less (14 boys and 12 girls), with hypopigmentation and hyperpigmentation along Blaschko lines and central nervous system manifestations were included during the period June 2001 to December 2003. Detailed physical, cutaneous, and systemic examinations were carried out. Relevant investigations included histopathology, karyotyping, electroencephalogram, computerized tomography scans, and magnetic resonance imaging of the brain whenever possible. Twenty children had hyperpigmentation along the lines of Blaschko, four had hypopigmentation, and two had a combination of the two. Eight children had diffuse involvement. Of these, two each had hypomelanosis of Ito, incontinentia pigmenti and linear and whorled nevoid hypermelanosis. The remaining 20 patients could not be categorized as any of the described entities. The majority (92.3%) of patients manifested skin and central nervous system disorders before the age of 2 years. Hyperpigmentation along Blaschko lines was significantly higher in patients with central nervous system manifestations (p = 0.01). Developmental delay was the most frequent central nervous system presentation. Multiple systems were affected, including the eyes. Histology was useful to distinguish incontinentia pigmenti from other types of nevoid hyperpigmentation.

Pigmentary lines of the newborn.

We report three cases of infants born with extensive linear and retiform pigmentation on the trunk and extremities. In none of these cases was there an associated underlying medical disorder, and in all cases the pigmentation resolved by 6 months of age. It appears that the treatment of choice for this transient disorder is reassurance.