Incontinentia Pigmenti Achromians (Ito)

Takematsu, Hideaki

doi:10.1001/archderm.1983.01650290031012

Cited by 77 publications

(20 citation statements)

References 19 publications

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“…346,353 This seems unlikely in our current state of knowledge. 345,346,[357][358][359] Ileal atresia and leptomeningeal angiomatosis are other associated abnormalities. 355 Other features of hypomelanosis of Ito include a female preponderance, a tendency for lesions to become somewhat pigmented in late childhood, a family history in a few cases, 356 and the coexistence in a high percentage of patients of abnormalities of the central nervous system (particularly seizures and mental retardation), eyes, hair, teeth, and musculoskeletal system.…”

Section: Hypomelanosis Of Itomentioning

confidence: 84%

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Disorders of pigmentation

Weedon

2010

Weedon's Skin Pathology

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Section: Hypomelanosis Of Itomentioning

confidence: 84%

“…[345][346][347][348][349][350] The pattern resembles a negative image of the pigmentation seen in incontinentia pigmenti (see p. 297). [345][346][347][348][349][350] The pattern resembles a negative image of the pigmentation seen in incontinentia pigmenti (see p. 297).…”

Section: Hypomelanosis Of Itomentioning

confidence: 99%

Disorders of pigmentation

Weedon

2010

Weedon's Skin Pathology

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“…Scoliosis and asymmetry of the trunk are frequently observed in cases of chromosomal mosaicism, especially in patients with so-called hypomelanosis of Ito. 3 7 It could be argued that this s' association should be categorised as ple of hypomelanosis of Ito.5 How( now clear that "hypomelanosis of Ito" constitute a distinct entity but rep cutaneous sign of numerous differe of mosaicism. "6 For this reason 1 Figure 3 "Cutis tricolor": hyperpigmented spots close to hypopigmented macules involving the neck and the shoulder on the right side.…”

Section: Discussionmentioning

confidence: 99%

"Cutis tricolor": congenital hyper- and hypopigmented macules associated with a sporadic multisystem birth defect: an unusual example of twin spotting?

Happle

Barbi²,

Eckert³

et al. 1997

Journal of Medical Genetics

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An uncommon coexistence of circumscribed hyperpigmentation and hypopigmentation, in close proximity to each other, is described in a 17 year old patient with various other congenital defects, such as dysmorphic facial appearance, severe kyphoscoliosis, delayed motor development, epileptic seizures, and mental retardation. We suggest the combination of hyper-and hypopigmented cutaneous lesions is an example of allelic twin spotting. Because the skin of this patient showed three different degrees of pigmentation, the term "cutis tricolor" is proposed. (7Med Genet 1997;34:676-678 On examination at the age of 17 years his height was 145 cm (18 cm below the 3rd centile), his weight was 42.4 kg (5 kg below the 3rd centile), and head circumference 52 cm (1.5 cm below the 3rd centile). He had bushy eyebrows, deep set and backward rotated ears, broad nostrils, and prognathism (figs 1 and 2). A pronounced kyphoscoliosis resulting in chest deformity was present (fig 2). His hearing appeared to be normal and his muscle tone and joint mobility were also normal. An EEG showed polyspike-wave complexes. A ventricular septal defect had been closed surgically at the age of 9 years. On ultrasonographic examination, thoracic and abdominal organs were otherwise normal. The testes were not palpable and a CT scan failed to show them within the abdomen. However, an HCG test indicated the presence of functionally active testicular tissue.On examination of the skin, a peculiar pigmentary disturbance was noted. On the right side of his body multiple segmented areas of cafe au lait hyperpigmentation involved the mandibular area and the arm. In addition, ipsilateral, well demarcated areas of hypopigmentation were present on the neck and the shoulder, in close proximity to the hyperpigmented lesions (fig 3).

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“…In our case, the hypochromic lesions were noticed by the mother between the 2nd and the 3rd year of age. They persisted for a certain period of time and later, as in the majority of cases, disappeared before adulthood [9]. The hypopigmented areas involved the trunk and/ or extremities, either bilaterally or unilaterally.…”

Section: Resultsmentioning

confidence: 91%

“…Various nervous system alterations and other serious extracutaneous features may be associated with the skin anomalies; cutaneous involvement alone is very rare [9].…”

Section: Hypomelanosis Of Lto Is a Relatively Uncommonmentioning

confidence: 99%

Hypomelanosis of Ito: a case report with clinical and ultrastructural data

Cellini¹,

Morroni²,

Simonetti³

et al. 1998

Acad Dermatol Venereol

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Hypomelanosis of Ito (HI) is an uncommon skin disorder characterized by the presence of hypochromic areas associated with visceral abnormalities, the most common being neurological, muscular, skeletal and ocular. The authors describe a typical case of hypomelanosis of Ito in a 7-year-old child. The patient was obese, suffered from scoliosis, flat feet and had a bilateral genu valgus. No neurological, ophthalmological or dental malformations were noted. An electron microscopic study of a hypomelanotic area showed decreased functional activity in the melanocytes, which contained only a few rudimentary cytoplasmatic projections and poorly developed organelles. In addition, there was a reduction in the number of mature melanosomes.

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Incontinentia Pigmenti Achromians (Ito)

Cited by 77 publications

References 19 publications

Disorders of pigmentation

Disorders of pigmentation

"Cutis tricolor": congenital hyper- and hypopigmented macules associated with a sporadic multisystem birth defect: an unusual example of twin spotting?

Hypomelanosis of Ito: a case report with clinical and ultrastructural data

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