Dermatology Online Journal

Hereditary papulotranslucent acrokeratoderma: A case report and literature review
Julie K Sracic MD, Ravi S Krishnan MD, Janna K Nunez-Gussman MD, Ida F Orengo MD, Sylvia Hsu MD
Dermatology Online Journal 11 (3): 17

Department of Dermatology, Baylor College of Medicine, Houston, Texas. shsu@bcm.tmc.edu

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Abstract

Hereditary papulotranslucent acrokeratoderma is a rare autosomal-dominant syndrome of the hands and feet characterized by persistent, asymptomatic, yellowish to white papules and plaques associated with fine-textured scalp hair and an atopic diathesis. Histopathologically, focal hyperkeratosis, hypergranulosis, and acanthosis of the epidermis are seen. We present a case of hereditary papulotranslucent acrokeratoderma in a young adult woman. The literature of this unusual condition is reviewed, and its relationship to acquired papulotranslucent acrokeratoderma is discussed.

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Introduction:

Hereditary papulotranslucent acrokeratoderma was originally described by Onwukwe[1] and has been characterized by persistent, asymptomatic, yellowish-white translucent papules and plaques on the palms and soles. We report a case of this unusual condition in a young adult female, with dramatic accentuation of her palmar lesions upon exposure to water.

Clinical synopsis

A 27-year-old female was evaluated in the dermatology clinic for asymptomatic, white, translucent papules located on her palms, and to a lesser extent, on her soles, bilaterally. The patient first became aware of this condition more than 6 years earlier, but sought no treatment. She noticed that her palmar lesions became dramatically pronounced immediately after taking showers, and would lessen in severity after approximately 1 hour. The patient reported having fine-textured scalp hair and her mother and brother have a history of asthma. There was no associated palmar hyperhidrosis and no reported history of exposure to arsenic. The patient's maternal grandmother, mother, sister, and two half-brothers all have similar symptoms, although they are all less severe than in our patient. Her maternal grandmother, mother, and one half-brother also have a history of Hailey-Hailey disease.

Figure 1
Scattered skin-colored papules on the palm.

Physical examination revealed 1-3 mm skin-colored papules distributed diffusely on the palms bilaterally. (Fig. 1) The soles were less so involved. The patient's hair was noted to be of a fine texture.

The patient was treated with topical 12 percent ammonium lactate cream (Lac-Hydrin, Westwood-Squibb Pharmaceuticals, Buffalo, NY), but reports only occasional use.

Discussion

Two forms of papulotranslucent acrokeratoderma have been reported in the literature, hereditary and transient reactive. Hereditary papulotranslucent acrokeratoderma was first described in 1973 by Onwukwe et al. as a new syndrome characterized by bilateral, symmetric, translucent, yellowish-white papules and plaques that concentrate mainly on the margins and areas of increased pressure and trauma on the palms and soles. The lesions began during puberty and the condition appeared to be inherited in an autosomal dominant fashion. While new papules eventually stopped appearing, existing lesions did not disappear. Associated findings included fine-textured scalp hair and an atopic diathesis. Also noticed was a wrinkling of the skin of the palms upon exposure to water. Histologically, biopsy specimens revealed marked, yet focal, hyperkeratosis, hypergranulosis, and acanthosis of the epidermis. The eccrine ducts were normal, and there was no sign of dermal inflammatory infiltrate [1]. A similar case was also described by Koster and Nasemann in 1985 [2]. Heymann published an article describing a patient with hereditary papulotranslucent acrokeratoderma in 1998 [3]. In contrast to the case originally described by Onwukwe, however, this patient did not have fine-textured scalp hair and there was no family history of atopy. In addition, the keratotic papules were not primarily confined to the margins of the hands.

Transient reactive papulotranslucent acrokeratoderma was first described in 1996 by English and McCollough, who reported an unusual condition in two sisters with a transient and recurrent keratoderma on the palms and lateral fingers [4]. Translucent white papules with dilated puncta appeared within 5 minutes of exposure to water. A tightening sensation of the skin was apparent upon drying. These findings began during puberty and were accompanied by palmar hyperhidrosis and increased foot odor. Histologically, a biopsy of one of the translucent papules showed dilated eccrine ostia and mild hyperkeratosis. In contrast to the syndrome described by Onwukwe, the lesions noted by English and McCollough were transient, marked by a fluctuating course, and were not primarily confined to pressured areas of the palm. Neither patient had a history of atopy or fine-textured scalp hair.

In 2000, Lowes et al. described a sporadic case in a 20-year-old woman with cystic fibrosis who acquired a whitish keratoderma on the margins of her palms after soaking them in water [5]. Yan et al. reported three female patients in 2001 with the same symptoms and preferred to use the term acquired aquagenic palmoplantar keratoderma to better differentiate this condition from the hereditary papulotranslucent acrokeratoderma described by Onwukwe [6]. All three of Yan's patients presented with the "hand-in-the-bucket" sign to demonstrate the characteristic burning and edema that occurred upon brief exposure to water. Also in 2001, McCormack described two additional patients with pruritic, white papules on the bilateral palms that became more accentuated and painful upon wetting of the hands [7]. Those authors proposed the term aquagenic syringeal acrokeratoderma to emphasize the worsening of symptoms upon exposure to water and the characteristic dilated sweat ducts. Since then, three reports have described four other patients with a similar entity [8, 9, 10].

It is important to note the differences between hereditary and acquired papulotranslucent acrokeratoderma. Aquagenic syringeal acrokeratoderma (ASA) appears to be an acquired process, although English and McCollough suggested a possible autosomal recessive pattern of inheritance [4]. ASA is characterized by symptomatic, burning, translucent white papules and plaques that become edematous and painful following exposure to water. This condition is episodic, and generally involves the hands more so than the feet. All cases reported so far have occurred in adolescent and young women.

HPA, on the other hand, demonstrates an autosomal dominant pattern of inheritance. This condition presents as asymptomatic translucent whitish papules and plaques on the hands and feet. The lesions are persistent once they appear. Associated findings include an atopic diathesis and fine-textured scalp hair. The clinical and histopathological features of our patient appear to be consistent with those of hereditary papulotranslucent acrokeratoderma (HPA). Her translucent lesions are persistent and demonstrate an autosomal dominant mode of inheritance, as her maternal grandmother, mother, two half-brothers and sister all share similar symptoms. She has fine-textured scalp hair and reports a family history of atopy. Our patient's reactivity to water, however, is a prominent characteristic of aquagenic syringeal acrokeratoderma [7]. The shared features of both HPA and ASA in our patient provide strong evidence that these two conditions, while distinct entities, may be related within a family of diseases.

The pathogenesis of HPA is unclear. Because the lesions occur primarily on the palms and soles, physical trauma may play a role in initiating this condition [1]. Although symptoms typically begin during puberty, new lesions gradually stop appearing as the patient ages [1]. Specific treatments for HPA are not usually necessary because the condition is generally asymptomatic [6]. Our patient's lesions are bothersome only with respect to cosmetic concerns. Treatment with topical 12 percent ammonium lactate cream (Lac-Hydrin, Westwood-Squibb Pharmaceuticals, Buffalo, NY) applied to lesions has not resulted in a significant improvement in our patient's symptoms, although she admits to only occasional use of the cream.

The patient presented here demonstrates a new case of hereditary papulotranslucent acrokeratoderma, a rare autosomal dominant disease of the skin that is a variant of punctate keratoderma. Our patient's similarity to acquired aquagenic syringeal acrokeratoderma with respect to its dramatic reaction upon exposure to water may prompt the physician to more easily recognize this condition.

References

1. Onwukwe MF, Mihm MC Jr, Toda K. Hereditary papulotranslucent acrokeratoderma: a new variant of familial punctate keratoderma? Arch Dermatol 1973;108:108-10.

2. Koster W, Nasemann T. Hereditary papulotranslucent acrokeratoderma. Z Hautkr 1985;60:211-4.

3. Heymann WR. Hereditary papulotranslucent acrokeratoderma. Cutis 1998;61:29-30.

4. English JC III, McCollough ML. Transient reactive papulotranslucent acrokeratoderma. J Am Acad Dermatol 1996;34:686-7.

5. Lowes MA, Khaira GS, Holt D. Transient reactive papulotranslucent acrokeratoderma associated with cystic fibrosis. Australas J Dermatol 2000;41:172-4.

6. Yan AC, Aasi SZ, Alms WJ, et al. Aquagenic palmoplantar keratoderma. J Am Acad Dermatol 2001;44:696-9.

7. MacCormack MA, Wiss K, Malhotra R. Aquagenic syringeal acrokeratoderma: Report of two teenage cases. J Am Acad Dermatol 2001;45:124-6.

8. Itin PH, Lautenschlager S. Aquagenic syringeal acrokeratoderma (transient reactive papulotranslucent acrokeratoderma) Dermatology 2002;204:8-11.

9. Schmults C, Sidhu G, Urbanek RW. Aquagenic syringeal acrokeratoderma. Dermatology Online Journal 2003;9(4):27.

10. Betlloch I, Vergara G, Albares MP, Pascual J-C, Silvestre J-F, Botella R. Aquagenic keratoderma. J Euro Acad Dermatol Venereol 2003;17:306-7.

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