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An 11-year-old boy with dark skin, swallowing difficulty and absence of tears.

Mallick D, Thapa R - Indian J Dermatol (2009)

View Article: PubMed Central - PubMed

Affiliation: Department of Pediatrics, The Institute of Child Health, Kolkata, West Bengal, India. dr_dkm@yahoo.co.in

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An 11-year-old boy born to nonconsanguineous parents was initially seen for complaint of progressive darkening of his body along with blackish pigmentation of tongue for the last 4 years, and easy fatigability with increasing weakness of the limbs for 2 years... The basal serum cortisol level from a blood sample taken at 8 am was < 10 mg/dL (normal >20 mg/dL)... Prolonged adrenocorticotropic hormone (ACTH) stimulation test (1 mg Synacthen depot IM daily for 3 days) confirmed the decreased adrenal reserves... It is an autosomal recessive disorder characterized by alacrima, achalasia and ACTH insensitivity... Three of these individuals also had defective tear production, leading the authors to speculate that the combination of achalasia, adrenal deficiency and alacrima represented an inherited familial disorder... Following this, a number of authors published similar reports that have helped to define the primary and associated features of this syndrome... Several authors published descriptions of a more global autonomic disturbance associated with the original Allgrove triad, leading one author to suggest the name “4A” syndrome (adrenal insufficiency, achalasia of the cardia, alacrima, autonomic abnormalities)... Differentials of Allgrove's syndrome include the following: Familial glucocorticoid deficiency (FGD), which has adrenal insufficiency as the only manifestation... The gene for ACTH receptor, which is responsible for FGD, has been found on 18p11.2... Adrenoleukodystrophy (ALD), an X-linked recessive white matter disorder, causes impaired glucocorticoid production with minimal or no mineralocorticoid production.

No MeSH data available.


Related in: MedlinePlus

Knuckle hyperpigmentation
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Figure 0002: Knuckle hyperpigmentation

Mentions: On examination his weight and height were 21 kg and 124 cm respectively (both below age and sex adjusted 3rd percentile; Agarwal KN et al., Indian Academy of Pediatrics, 2007). The vitals were normal and mild pallor was noted. Diffuse hyperpigmentation was noted over the face [Figure 1] and flexural areas, including the axillae, anterior portion of the neck, groins, genitals and the back of knee. Darkening and desiccation of the skin was also significant over the knuckles of the fingers of both the hands [Figure 2]. The tongue was remarkable for blackish brown, leathery hyperpigmentation, especially prominent over the posterior two thirds and the lateral borders [Figure 3]. The tip was uninvolved. The penis was normal in size; with bilaterally distended testes, each 2.5 mL in volume. Neurological examination revealed weakness in the proximal muscles of both upper and lower limbs. The findings from local examination of the neck, including the thyroid, were normal. There was no evidence of organomegaly. The findings from examination of the other systems were normal. On direct questioning, the mother stated that her son had no tears even when he cried.


An 11-year-old boy with dark skin, swallowing difficulty and absence of tears.

Mallick D, Thapa R - Indian J Dermatol (2009)

Knuckle hyperpigmentation
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC2800890&req=5

Figure 0002: Knuckle hyperpigmentation
Mentions: On examination his weight and height were 21 kg and 124 cm respectively (both below age and sex adjusted 3rd percentile; Agarwal KN et al., Indian Academy of Pediatrics, 2007). The vitals were normal and mild pallor was noted. Diffuse hyperpigmentation was noted over the face [Figure 1] and flexural areas, including the axillae, anterior portion of the neck, groins, genitals and the back of knee. Darkening and desiccation of the skin was also significant over the knuckles of the fingers of both the hands [Figure 2]. The tongue was remarkable for blackish brown, leathery hyperpigmentation, especially prominent over the posterior two thirds and the lateral borders [Figure 3]. The tip was uninvolved. The penis was normal in size; with bilaterally distended testes, each 2.5 mL in volume. Neurological examination revealed weakness in the proximal muscles of both upper and lower limbs. The findings from local examination of the neck, including the thyroid, were normal. There was no evidence of organomegaly. The findings from examination of the other systems were normal. On direct questioning, the mother stated that her son had no tears even when he cried.

View Article: PubMed Central - PubMed

Affiliation: Department of Pediatrics, The Institute of Child Health, Kolkata, West Bengal, India. dr_dkm@yahoo.co.in

AUTOMATICALLY GENERATED EXCERPT
Please rate it.

An 11-year-old boy born to nonconsanguineous parents was initially seen for complaint of progressive darkening of his body along with blackish pigmentation of tongue for the last 4 years, and easy fatigability with increasing weakness of the limbs for 2 years... The basal serum cortisol level from a blood sample taken at 8 am was < 10 mg/dL (normal >20 mg/dL)... Prolonged adrenocorticotropic hormone (ACTH) stimulation test (1 mg Synacthen depot IM daily for 3 days) confirmed the decreased adrenal reserves... It is an autosomal recessive disorder characterized by alacrima, achalasia and ACTH insensitivity... Three of these individuals also had defective tear production, leading the authors to speculate that the combination of achalasia, adrenal deficiency and alacrima represented an inherited familial disorder... Following this, a number of authors published similar reports that have helped to define the primary and associated features of this syndrome... Several authors published descriptions of a more global autonomic disturbance associated with the original Allgrove triad, leading one author to suggest the name “4A” syndrome (adrenal insufficiency, achalasia of the cardia, alacrima, autonomic abnormalities)... Differentials of Allgrove's syndrome include the following: Familial glucocorticoid deficiency (FGD), which has adrenal insufficiency as the only manifestation... The gene for ACTH receptor, which is responsible for FGD, has been found on 18p11.2... Adrenoleukodystrophy (ALD), an X-linked recessive white matter disorder, causes impaired glucocorticoid production with minimal or no mineralocorticoid production.

No MeSH data available.


Related in: MedlinePlus