This week's detail: DPR effects
Posted: Tue Oct 24, 2006 8:33 am
Kasey,
Thanks for finding another great article. That was fascinating. I did a little further reading and found some references. The absence of dermal ridge patterns seems to be one of many side effects, and not manifested in all patients with DPR (the pigmentation issue is much more prevalent and the focus of study). But I will see if I can track down at least the first article below to add to the Grail. PLUS, if ANYONE CAN FIND SOME PICTURES OF THIS EFFECT, I WOULD LOVE TO ADD THOSE TOO!!!
g.
Am J Med Genet. 1983 Sep;16(1):81-8.
Absence of dermal ridge patterns: genetic heterogeneity.Reed T, Schreiner RL.
An apparently new form of complete absence of dermal ridge patterns was transmitted as an autosomal dominant trait through five generations in an Irish-American family. Affected individuals lacked dermatoglyphic patterns, sweat pores, and ability to sweat in the volar areas of the fingertips, palms, and soles. They also had congenital milia and blisters on the fingertips and soles at birth, abnormal nails, single transverse palmar creases, increased heat tolerance, and painful fissures in adult life around the fingernails in cold weather.
AND 2)
Histologic Findings: The typical histopathologic picture shows liquefaction degeneration of the basal layer and dermal pigmentary incontinence. That is, an interface dermatitis can be present.
History: The primary clinical feature of DPR is the occurrence of reticulate hyperpigmented macules at birth or in early childhood, usually by the age of 2 years.
The hyperpigmentation persists throughout life, showing no tendency of spontaneous fading.
The reticulate network of hyperpigmented macules occurs particularly on the trunk, neck, and proximal areas of the limbs.
Physical:
Most reported cases have demonstrated a clinical triad of reticulate hyperpigmentation, mild nonscarring alopecia, and mild onychodystrophy.
Other associated features may include the following:
Punctate or diffuse palmoplantar hyperkeratosis
Darkly pigmented nipples
Nonscarring blisters on the dorsa of hands and feet following minor trauma or sun exposure
Hyperhidrosis or hypohidrosis
Adermatoglyphia (loss of dermal ridges on fingers and toes)
Thin eyebrows and sparse pubic and axillary hair
Causes: DPR is believed to be a genetic disorder with probable autosomal dominant inheritance.
Background: Dermatopathia pigmentosa reticularis (DPR) is a very rare disorder with the diagnostic triad of generalized reticulate hyperpigmentation, noncicatricial alopecia, and onychodystrophy. Many other dermatologic findings have been associated with this triad. These findings include adermatoglyphia, hypohidrosis or hyperhidrosis, palmoplantar hyperkeratosis, and acral dorsal nonscarring blisters (Bu, 1997). The reticulate pigmentation of DPR occurs at birth or during early childhood.
Pathophysiology: Naegeli-Franceschetti-Jadassohn syndrome (NFJS) and DPR may be variations on the same genetic defect.
NFJS and DPR are ectodermal dysplasias. They are inherited in an autosomal dominant fashion. Both manifest with the absence of dermatoglyphics, reticulate hyper pigmentation of the skin, hypohidrosis, and heat intolerance. Palmoplantar keratoderma, nail dystrophy, and enamel defects are common in NFJS, whereas diffuse alopecia is only seen in DPR.
Still, the relationship of NFJS must be further clarified. In some NFJS pedigrees, the reticulate pigmentation fades after puberty and may disappear completely in old age. Hypohidrosis, the main problem for the patients, remains constant. Teeth are always severely affected, leading to early total loss. All patients with NFJS lack dermatoglyphics. Diffuse palmoplantar keratoderma may coexist with punctate keratoses that are sometimes accentuated in the creases or exhibit a linear pattern. Congenital malalignment of the great toenails can occur (Itin, 1993).
Sprecher et al assessed linkage for chromosome 17q in a large Swiss family with NFJS. Band 17q has been postulated to contain the gene for NFJS. Sprecher et al found a considerably narrow NFJS gene region, from 27 cM to 6 cM, flanked by D17S933 and D17S934, with a maximum multipoint logarithm of the odds (LOD) score of 2.7 at marker locus D17S800. In addition, Sprecher et al studied a small family with DPR and reported that the linkage data they assembled suggested that DPR may map to band 17q. On 17q, the NFJS critical interval spans approximately 5.4 Mb and contains a minimum of 45 distinct genes.
Bu TS, Kim YK, Whang KU: A case of dermatopathia pigmentosa reticularis. J Dermatol 1997 Apr; 24(4): 266-9[Medline].
Fulk CS: Primary disorders of hyperpigmentation. J Am Acad Dermatol 1984 Jan; 10(1): 1-16[Medline].
Heimer WL 2nd, Brauner G, James WD: Dermatopathia pigmentosa reticularis: a report of a family demonstrating autosomal dominant inheritance. J Am Acad Dermatol 1992 Feb; 26(2 Pt 2): 298-301[Medline].
Itin PH, Lautenschlager S, Meyer R, et al: Natural history of the Naegeli-Franceschetti-Jadassohn syndrome and further delineation of its clinical manifestations. J Am Acad Dermatol 1993 Jun; 28(6): 942-50[Medline].
Maso MJ, Schwartz RA, Lambert WC: Dermatopathia pigmentosa reticularis. Arch Dermatol 1990 Jul; 126(7): 935-9[Medline].
Rycroft RJ, Calnan CD, Allenby CF: Dermatopathia pigmentosa reticularis. Clin Exp Dermatol 1977 Mar; 2(1): 39-44[Medline].
Schnur RE, Heymann WR: Reticulate hyperpigmentation. Semin Cutan Med Surg 1997 Mar; 16(1): 72-80[Medline].
Sprecher E, Itin P, Whittock NV, et al: Refined mapping of Naegeli-Franceschetti-Jadassohn syndrome to a 6 cM intervalon chromosome 17q11.2-q21 and investigation of candidate genes. J Invest Dermatol 2002 Sep; 119(3): 692-8[Medline].
van der Lugt L: Dermatopathia pigmentosa reticularis hyperkeratotica et mutilans. Dermatologica 1970; 140(5): 294-302[Medline].
Whittock NV, Coleman CM, McLean WH, et al: The gene for Naegeli-Franceschetti-Jadassohn syndrome maps to 17q21. J Invest Dermatol 2000 Oct; 115(4): 694-8[Medline].
Thanks for finding another great article. That was fascinating. I did a little further reading and found some references. The absence of dermal ridge patterns seems to be one of many side effects, and not manifested in all patients with DPR (the pigmentation issue is much more prevalent and the focus of study). But I will see if I can track down at least the first article below to add to the Grail. PLUS, if ANYONE CAN FIND SOME PICTURES OF THIS EFFECT, I WOULD LOVE TO ADD THOSE TOO!!!
g.
Am J Med Genet. 1983 Sep;16(1):81-8.
Absence of dermal ridge patterns: genetic heterogeneity.Reed T, Schreiner RL.
An apparently new form of complete absence of dermal ridge patterns was transmitted as an autosomal dominant trait through five generations in an Irish-American family. Affected individuals lacked dermatoglyphic patterns, sweat pores, and ability to sweat in the volar areas of the fingertips, palms, and soles. They also had congenital milia and blisters on the fingertips and soles at birth, abnormal nails, single transverse palmar creases, increased heat tolerance, and painful fissures in adult life around the fingernails in cold weather.
AND 2)
Histologic Findings: The typical histopathologic picture shows liquefaction degeneration of the basal layer and dermal pigmentary incontinence. That is, an interface dermatitis can be present.
History: The primary clinical feature of DPR is the occurrence of reticulate hyperpigmented macules at birth or in early childhood, usually by the age of 2 years.
The hyperpigmentation persists throughout life, showing no tendency of spontaneous fading.
The reticulate network of hyperpigmented macules occurs particularly on the trunk, neck, and proximal areas of the limbs.
Physical:
Most reported cases have demonstrated a clinical triad of reticulate hyperpigmentation, mild nonscarring alopecia, and mild onychodystrophy.
Other associated features may include the following:
Punctate or diffuse palmoplantar hyperkeratosis
Darkly pigmented nipples
Nonscarring blisters on the dorsa of hands and feet following minor trauma or sun exposure
Hyperhidrosis or hypohidrosis
Adermatoglyphia (loss of dermal ridges on fingers and toes)
Thin eyebrows and sparse pubic and axillary hair
Causes: DPR is believed to be a genetic disorder with probable autosomal dominant inheritance.
Background: Dermatopathia pigmentosa reticularis (DPR) is a very rare disorder with the diagnostic triad of generalized reticulate hyperpigmentation, noncicatricial alopecia, and onychodystrophy. Many other dermatologic findings have been associated with this triad. These findings include adermatoglyphia, hypohidrosis or hyperhidrosis, palmoplantar hyperkeratosis, and acral dorsal nonscarring blisters (Bu, 1997). The reticulate pigmentation of DPR occurs at birth or during early childhood.
Pathophysiology: Naegeli-Franceschetti-Jadassohn syndrome (NFJS) and DPR may be variations on the same genetic defect.
NFJS and DPR are ectodermal dysplasias. They are inherited in an autosomal dominant fashion. Both manifest with the absence of dermatoglyphics, reticulate hyper pigmentation of the skin, hypohidrosis, and heat intolerance. Palmoplantar keratoderma, nail dystrophy, and enamel defects are common in NFJS, whereas diffuse alopecia is only seen in DPR.
Still, the relationship of NFJS must be further clarified. In some NFJS pedigrees, the reticulate pigmentation fades after puberty and may disappear completely in old age. Hypohidrosis, the main problem for the patients, remains constant. Teeth are always severely affected, leading to early total loss. All patients with NFJS lack dermatoglyphics. Diffuse palmoplantar keratoderma may coexist with punctate keratoses that are sometimes accentuated in the creases or exhibit a linear pattern. Congenital malalignment of the great toenails can occur (Itin, 1993).
Sprecher et al assessed linkage for chromosome 17q in a large Swiss family with NFJS. Band 17q has been postulated to contain the gene for NFJS. Sprecher et al found a considerably narrow NFJS gene region, from 27 cM to 6 cM, flanked by D17S933 and D17S934, with a maximum multipoint logarithm of the odds (LOD) score of 2.7 at marker locus D17S800. In addition, Sprecher et al studied a small family with DPR and reported that the linkage data they assembled suggested that DPR may map to band 17q. On 17q, the NFJS critical interval spans approximately 5.4 Mb and contains a minimum of 45 distinct genes.
Bu TS, Kim YK, Whang KU: A case of dermatopathia pigmentosa reticularis. J Dermatol 1997 Apr; 24(4): 266-9[Medline].
Fulk CS: Primary disorders of hyperpigmentation. J Am Acad Dermatol 1984 Jan; 10(1): 1-16[Medline].
Heimer WL 2nd, Brauner G, James WD: Dermatopathia pigmentosa reticularis: a report of a family demonstrating autosomal dominant inheritance. J Am Acad Dermatol 1992 Feb; 26(2 Pt 2): 298-301[Medline].
Itin PH, Lautenschlager S, Meyer R, et al: Natural history of the Naegeli-Franceschetti-Jadassohn syndrome and further delineation of its clinical manifestations. J Am Acad Dermatol 1993 Jun; 28(6): 942-50[Medline].
Maso MJ, Schwartz RA, Lambert WC: Dermatopathia pigmentosa reticularis. Arch Dermatol 1990 Jul; 126(7): 935-9[Medline].
Rycroft RJ, Calnan CD, Allenby CF: Dermatopathia pigmentosa reticularis. Clin Exp Dermatol 1977 Mar; 2(1): 39-44[Medline].
Schnur RE, Heymann WR: Reticulate hyperpigmentation. Semin Cutan Med Surg 1997 Mar; 16(1): 72-80[Medline].
Sprecher E, Itin P, Whittock NV, et al: Refined mapping of Naegeli-Franceschetti-Jadassohn syndrome to a 6 cM intervalon chromosome 17q11.2-q21 and investigation of candidate genes. J Invest Dermatol 2002 Sep; 119(3): 692-8[Medline].
van der Lugt L: Dermatopathia pigmentosa reticularis hyperkeratotica et mutilans. Dermatologica 1970; 140(5): 294-302[Medline].
Whittock NV, Coleman CM, McLean WH, et al: The gene for Naegeli-Franceschetti-Jadassohn syndrome maps to 17q21. J Invest Dermatol 2000 Oct; 115(4): 694-8[Medline].