Punctate Palmoplantar Keratoderma (Brauer-Buschke Fischer Syndrome) and Pituitary Adenoma

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He was admitted in intensive care unit because a severe hypovolemic shock after gastroenteritis. He had an arterialpressure at 80 mmHg/ 60 mmHg with moderate regular tachycardia up to 100 pulse per minute. The examination showed notableskin and mucosal pallor, macroglossia and diffuse cutaneous infiltration. He had received insulin supplementation, hydration and adequate antibiotics. After several days of treatment, his arterial pressure had remained low under 100 mmHg/ 60 mmHg, with hyponatremia and normal kaliemia: hypothyroidism and adrenocortical insufficiency were suspected.

Later, his status had improved dramatically. After resuscitation, the hormonal tests had revealed multiple pituitary hormone deficiency, including corticotroph, thyrotroph, somatotroph, and gonadotroph deficiencies (Table 1). The MRI exploration, looking for pituitary lesions, had shown the presence of a necrotic pituitary macroadenoma, the cavernous sinus and the pituitary stalk were of normal appearance (Figure 1 and Figure 2).

Figure 1. Pituitary MRI showing a pituitary macroadenoma

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Figure 2. Pituitary MRI showing a pituitary macroadenoma

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Clinical examination has also shown the presence of palmoplantar hyperkeratosis: multiple popular hyperkeratotic lesions with variable diameter between 2 and 10 mm (Figure 3 and Figure 4). These lesions had appeared at the age of 35 years and aggravated by manual labor. No exploration or treatment was carried out. The research of similar cases in the family had revealed the presence of the KPP 1 in many other family members over four generations. It was associated with colorectal cancer, hepatocellular carcinoma and melanoma in different family members (Figure 5). The skin biopsy with histological study showed considerable hyperkeratosis, with acanthosis and thickening of the granular layer without any sign of malignancy (Figure 6 and Figure 7).

Figure 3. Plantar hyperkeratosis

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Figure 4. Palmar hyperkeratosis

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Figure 5. Family tree showing affected members in different generations

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Figure 6. Histological sections of the skin biopsy of the lesions of palmar and plantar hyperkeratosis

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Figure 7. Histological sections of the skin biopsy of the lesions of palmar and plantar hyperkeratosis

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3. Discussion

The KPP1 is a rare hereditary skin disease. It is characterized by epidermal differentiation impairment causing the appearance of multiple hyperkeratotic papules distributed irregularly on the palms and the soles ^{[2, 3, 4]}.

Its pathophysiology is still unclear. However the combination of impairment of genetic and environmental factors is most likely. The transmission is often autosomal dominant, rarely autosomal recessive. ^{[5, 6, 7]}. This is the case of our patient.The aggravation by manual work is well demonstrated ^[8].

Giehl et al. reported in 2012, for the first time the exact pathophysiological mechanism of the disease: two heterozygous nonsense mutation of the AAGAB gene located on chromosome 15 were found in all affected individuals of the study ^[2].

In histology, the dermis is often normal without inflammatory reaction. On the other hand, there is marked hyperkeratosis, parakeratosis, and mild acanthosis (Figure 5), which is consistent with our results ^[9]. The age of onset varies from 12 to 30 years which is the case of our patient and the various members of his family ^[10]. Indeed since 1980, many families with a KPP1 have been reported (Table 2) ^{[5, 6, 8, 11, 12, 13]}.

Table 2. Different cases of KPP 1 in the literature

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