A Recessive Disorder With Growth and Mental Retardation, Peculiar Facies, Abnormal Pigmentation, Hepatic Cirrhosis and Aminoaciduria

Tay, C. H.; Rajagopalan, Krithika; McEVOY‐EfOWE, E.; Tock, E. P. C.; Costa, Jonathan L.

doi:10.1111/j.1651-2227.1974.tb17004.x

Cited by 14 publications

(5 citation statements)

References 8 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The pigmentary changes noted in our patient and in previous reports in the literature (20,21) suggest that the skin may be one of the systems affected by Seckel syndrome. Although her pigmentary skin changes could resemble postinflammatory dyspigmentation, our patient had no history of a previous inflammatory skin eruption at these sites.…”

Section: Discussionsupporting

confidence: 76%

“…Multiple café‐au‐lait macules along with lentigines were present from birth in these patients. During later childhood, they demonstrated premature graying of the hair and developed vitiligo of the shins, knees, and extensor surfaces (21). We report a patient with Seckel syndrome who presented with moderately severe atopic dermatitis and multiple hypopigmented macules and papules.…”

mentioning

confidence: 99%

See 1 more Smart Citation

Pigmentary Changes and Atopic Dermatitis in a Patient with Seckel Syndrome

Brackeen

Babb-Tarbox

Smith

2007

Pediatric Dermatology

View full text Add to dashboard Cite

Seckel syndrome is a very rare form of primordial dwarfism characterized by antenatal and postnatal growth delay, proportionate extreme short stature, a prominent beak-like nose, hypoplasia of the malar area, small chin, microcephaly, deformed ears lacking lobules, skeletal malformations, mental retardation, and developmental delay. This syndrome has been described with associated disorders of orthopedic, neurologic, hematologic, cardiac, and ocular systems; however, only a few reports mention dermatologic involvement. We describe a 5-year-old girl with classic Seckel syndrome who presented with moderately severe atopic dermatitis and diffuse hypopigmented macules and papules.

show abstract

Section: Discussionsupporting

confidence: 76%

mentioning

confidence: 99%

Pigmentary Changes and Atopic Dermatitis in a Patient with Seckel Syndrome

Brackeen

Babb-Tarbox

Smith

2007

Pediatric Dermatology

View full text Add to dashboard Cite

show abstract

“…Nevertheless most cases of widespread lentiginosis are associated with a variety of physical non-cutaneous abnormalities affecting the cardiac, musculoskeletal, neurological, reproductive, gastrointestinal and auditory system [21,22,23,24,25,26,27,28,29,30,31,32,33,34,35]. LEOPARD syndrome and Carney complex (LAMB and NAME syndrome) are well-characterized disorders, both showing autosomal dominant hereditary patterns [21,36,37].…”

Section: Discussionmentioning

confidence: 99%

Generalized Solar Lentigines in a Patient with a History of Radon Exposure

Mauerer

Betz²,

Pasternack³

et al. 2010

Dermatology

View full text Add to dashboard Cite

A woman with generalized lentigines without associated non-cutaneous abnormalities is described. The patient showed brownish-pigmented flat or slightly elevated spots with a diameter of 1–5 mm. The histopathology of the lesions was compatible with a diagnosis of solar lentigines (SLs) or flat seborrhoeic keratosis. Unlike SLs, which develop typically on sun-damaged skin of the face, the dorsum of the hands and forearms, this patient showed the lentigines most prominently on the thighs and lower legs. Besides increased recreational UV exposure, the patient had a history of occupational radon exposure in a spa with radon-containing water. Genetic analysis identified a p.S249C FGFR3 hotspot mutation in 1 lesion, supporting the diagnosis of SLs. It remains elusive whether the occupational exposure to radon-containing water in addition to the recreational UV light exposure caused the unusual distribution of the SLs in this patient.

show abstract

“…Multiple, widespread, patterned lentigines are part of several clinical syndromes. The well‐known familial syndromes involving generalized lentiginosis and abnormalities of other organs include the LEOPARD syndrome, LAMB syndrome, 1 NAME syndrome, 2 and the syndrome described by Tay et al 3 . The LEOPARD syndrome shows lentigines (L), electrocardiographic abnormalities (E), ocular hypertelorism (O), pulmonary stenosis (P), abnormal genitalia (A), retardation of growth (R), and deafness (D) 4 .…”

Section: Discussionmentioning

confidence: 99%

Generalized lentiginosis with strabismus

et al. 2002

View full text Add to dashboard Cite

A 38‐year‐old Korean woman visited the Dermatology Department of Korea University Medical Center with her son and daughter in January 2001. The patient was a healthy individual with numerous brownish to black‐colored macular lesions particularly abundant on her face, but also present in large numbers on her trunk, extremities, buttocks, and lips (Fig. 1). The soles of the feet and the palms showed fewer numbers of macular lesions, and the oral mucosa, genital mucosa, and conjunctiva of each eye were not involved. She recalled the beginning of lentiginosis as being around the age of 3 years. A few lentigines were present initially, and their number and darkness increased with increasing age. On physical examination, she showed a normal heart beat without a murmur, normal sexual development, and normal growth pattern. Strabismus was observed, and the ratio of the distance between the inner canthi to the biorbital distance was 2.75, i.e. hypertelorism by definition (ratio of less than 2.85). Figure 1 Numerous brownish to black‐colored macules, most prominent on the face The results of laboratory evaluations, including complete blood cell count, serum chemical profile, urine analysis, chest X‐ray examination, electrocardiography, and audiography, were all negative or within normal limits. Biopsy of pigmented lesions from both the sun‐exposed area (face) and the non‐sun‐exposed area (trunk) was performed. Both revealed elongation of the rete ridges, increased numbers of melanocytes at the rete ridges, and occasional melanophages in the papillary dermis. No nevus cells or nests of melanocytes were present (Fig. 2). These findings were thought to be characteristic of lentigo simplex. 2 Biopsy from the patient's trunk (hematoxylin and eosin stain, × 400) reveals the elongation of rete ridges, increased numbers of melanocytes at the rete ridges, and occasional melanophages in the papillary dermis. No nevus cells or nests of melanocytes are present Her 9‐year‐old son showed the same skin lesions as his mother (Fig. 3). The numbers of lentigines were fewer and the distribution was sparser. On physical examination, he did not show any abnormalities. His interocular–biorbital index was 2.87, which was in the normal range. Results of laboratory evaluations, including complete blood cell count, serum chemical profile, urinanalysis, chest X‐ray examination, and electrocardiography, were negative or within normal limits. His audiography did not show any evidence of sensorineural defects. Biopsy of pigmented lesions from the sun‐exposed face and non‐sun‐exposed trunk showed the findings of lentigo simplex. 3 Son of the patient showing similar findings to his mother The pedigree (Fig. 4) showed that her father, her three brothers and three sisters, and her son had the same cutaneous findings. Her father had strabismus, but did not have any other abnormalities before he died from an accident. Her younger brother died of measles when he was 7 years old. Part of the facial lesions in the patient and her son were ...

show abstract

A Recessive Disorder With Growth and Mental Retardation, Peculiar Facies, Abnormal Pigmentation, Hepatic Cirrhosis and Aminoaciduria

Cited by 14 publications

References 8 publications

Pigmentary Changes and Atopic Dermatitis in a Patient with Seckel Syndrome

Pigmentary Changes and Atopic Dermatitis in a Patient with Seckel Syndrome

Generalized Solar Lentigines in a Patient with a History of Radon Exposure

Generalized lentiginosis with strabismus

Contact Info

Product

Resources

About